GFAP (glial fibrillary acidic protein) - Chinchilla Research Resource Database
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Gene: GFAP (glial fibrillary acidic protein) Homo sapiens
Analyze
Symbol: GFAP
Name: glial fibrillary acidic protein
CRRD ID: 619574
Description: Exhibits identical protein binding activity. Involved in intermediate filament organization. Localizes to cytoplasm and intermediate filament cytoskeleton. Predicted to colocalize with lysosome. Implicated in Alexander disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALXDRD; FLJ42474; FLJ45472
Orthologs:
Mus musculus (house mouse) : Gfap (glial fibrillary acidic protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gfap (glial fibrillary acidic protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gfap (glial fibrillary acidic protein)
Pan paniscus (bonobo/pygmy chimpanzee) : GFAP (glial fibrillary acidic protein)
Canis lupus familiaris (dog) : GFAP (glial fibrillary acidic protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gfap (glial fibrillary acidic protein)
Sus scrofa (pig) : GFAP (glial fibrillary acidic protein)
Chlorocebus sabaeus (African green monkey) : GFAP (glial fibrillary acidic protein)
Heterocephalus glaber (naked mole-rat) : Gfap (glial fibrillary acidic protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1744,903,159 - 44,916,937 (-)EnsemblGRCh38hg38GRCh38
GRCh381744,903,159 - 44,915,552 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371742,982,994 - 42,992,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361740,338,519 - 40,348,394 (-)NCBINCBI36hg18NCBI36
Build 341740,338,518 - 40,348,394NCBI
Celera1739,693,499 - 39,703,421 (-)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,748,049 - 38,758,000 (-)NCBIHuRef
CHM1_11743,219,135 - 43,229,061 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-tocopherol  (ISO)
(+)-pilocarpine  (ISO)
(R)-lipoic acid  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (EXP)
1,2-dichloroethane  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-Ethylhexanoic acid  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dichloro-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2-hydroxy-6-methoxybenzamide  (ISO)
5-fluorouracil  (ISO)
6-Cyano-7-nitroquinoxaline-2,3-dione  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
7-NITROINDAZOLE  (ISO)
8-Br-cAMP  (ISO)
8-OH-DPAT  (ISO)
abacavir  (EXP)
acetamide  (ISO)
acetic acid  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (ISO)
acrylamide  (EXP)
aflatoxin B2  (EXP)
agmatine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha,alpha-trehalose  (ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amentoflavone  (ISO)
aminoguanidine  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonia  (EXP)
ammonium chloride  (ISO)
amphetamine  (EXP,ISO)
apocynin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
bromochloroacetic acid  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
calyculin a  (ISO)
capsaicin  (EXP,ISO)
capsazepine  (ISO)
captan  (ISO)
carbofuran  (ISO)
carbonyl sulfide  (ISO)
carmustine  (EXP,ISO)
carvacrol  (ISO)
chlordecone  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
Citreoviridin  (ISO)
clofibrate  (ISO)
clotrimazole  (EXP)
clozapine  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
coenzyme Q10  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (ISO)
cyprodinil  (EXP,ISO)
dabigatran  (ISO)
dantrolene  (ISO)
dexamethasone  (EXP)
diazinon  (ISO)
dieldrin  (ISO)
digoxin  (ISO)
dihydrogen  (ISO)
dimethoate  (ISO)
dioxygen  (ISO)
diprotium  (ISO)
disodium selenite  (ISO)
doxorubicin  (ISO)
ebselen  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
finasteride  (ISO)
fisetin  (ISO)
fluoxetine  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
gamma-aminobutyric acid  (ISO)
gefitinib  (ISO)
glufosinate  (ISO)
glycidol  (ISO)
hydrogen peroxide  (ISO)
hydrogen sulfide  (ISO)
ibuprofen  (ISO)
ifosfamide  (ISO)
imidacloprid  (ISO)
isoliquiritigenin  (ISO)
kainic acid  (EXP,ISO)
ketamine  (ISO)
KN-93  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lead(II) chloride  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (EXP,ISO)
luteolin  (ISO)
lycopene  (ISO)
Magnolol  (ISO)
maneb  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
memantine  (ISO)
mepanipyrim  (EXP,ISO)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methionine sulfoximine  (ISO)
methotrexate  (ISO)
methylene blue  (ISO)
methylmercury chloride  (EXP,ISO)
microcystin  (ISO)
microcystin LF  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
morphine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nicotine  (ISO)
nifedipine  (ISO)
nitric oxide  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
olanzapine  (ISO)
oxaliplatin  (ISO)
oxidopamine  (ISO)
paclitaxel  (EXP,ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phencyclidine  (ISO)
phenethyl caffeate  (ISO)
Phenoxybenzamine  (ISO)
physostigmine  (ISO)
poly(I:C)  (ISO)
probenecid  (ISO)
probucol  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
propionic acid  (ISO)
Pyridostigmine bromide  (ISO)
pyrimethanil  (EXP,ISO)
pyrithiamine  (ISO)
pyrroloquinoline quinone  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
ruthenium red  (ISO)
sarin  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
scopolamine  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
Soman  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
strychnine  (ISO)
tadalafil  (ISO)
tamibarotene  (ISO)
tamoxifen  (ISO)
Tanshinone I  (EXP)
telmisartan  (ISO)
temozolomide  (EXP)
terbutaline  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thiacloprid  (ISO)
thioacetamide  (ISO)
thiophanate-methyl  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
trichostatin A  (ISO)
triclosan  (EXP)
trimethyltin  (EXP,ISO)
troglitazone  (ISO)
U-73122  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
verapamil  (ISO)
vitamin E  (ISO)
warfarin  (ISO)
wogonin  (EXP,ISO)
ziram  (ISO)
zonisamide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1601131   PMID:1602151   PMID:1636374   PMID:1847665   PMID:1918004   PMID:2114109   PMID:2155236   PMID:2163003   PMID:2201025   PMID:2349237   PMID:2740350   PMID:2780570  
PMID:7822264   PMID:7842474   PMID:7964717   PMID:8125298   PMID:8318270   PMID:8381971   PMID:8889548   PMID:9099667   PMID:9417904   PMID:9693047   PMID:10510252   PMID:10597774  
PMID:11138011   PMID:11379820   PMID:11519482   PMID:11567214   PMID:11587071   PMID:11595337   PMID:11867077   PMID:11891800   PMID:12034796   PMID:12058025   PMID:12084347   PMID:12169273  
PMID:12177195   PMID:12355421   PMID:12447932   PMID:12477932   PMID:12581808   PMID:12686604   PMID:12771190   PMID:12837269   PMID:12884016   PMID:12931206   PMID:12944715   PMID:12975300  
PMID:14557587   PMID:14702039   PMID:15174051   PMID:15238995   PMID:15284230   PMID:15285794   PMID:15465095   PMID:15469203   PMID:15477559   PMID:15489334   PMID:15519244   PMID:15732097  
PMID:15837555   PMID:15839736   PMID:15885920   PMID:15979880   PMID:16147953   PMID:16168593   PMID:16168595   PMID:16189514   PMID:16217707   PMID:16303762   PMID:16344560   PMID:16365790  
PMID:16458536   PMID:16507904   PMID:16507909   PMID:16565071   PMID:16773221   PMID:16826512   PMID:16866629   PMID:17008879   PMID:17077296   PMID:17203480   PMID:17318298   PMID:17500595  
PMID:17515952   PMID:17590381   PMID:17601350   PMID:17703343   PMID:17805552   PMID:17894839   PMID:17934883   PMID:17981838   PMID:17985264   PMID:18004641   PMID:18054694   PMID:18079314  
PMID:18197187   PMID:18239623   PMID:18276609   PMID:18508349   PMID:18685083   PMID:18977241   PMID:19019082   PMID:19034380   PMID:19110265   PMID:19129171   PMID:19170683   PMID:19221847  
PMID:19264642   PMID:19283393   PMID:19372295   PMID:19379794   PMID:19405953   PMID:19420941   PMID:19444543   PMID:19447584   PMID:19508443   PMID:19521276   PMID:19540848   PMID:19618846  
PMID:19647039   PMID:19663312   PMID:19668151   PMID:19686046   PMID:19878567   PMID:19886840   PMID:19888461   PMID:20048155   PMID:20121722   PMID:20176123   PMID:20301351   PMID:20395553  
PMID:20471030   PMID:20473970   PMID:20578042   PMID:20625342   PMID:20721574   PMID:20797626   PMID:20849398   PMID:20886841   PMID:20936779   PMID:20942581   PMID:21075782   PMID:21079180  
PMID:21197541   PMID:21368691   PMID:21702960   PMID:21756903   PMID:21779366   PMID:21832049   PMID:21876753   PMID:21917775   PMID:21976236   PMID:21987397   PMID:21988832   PMID:22118268  
PMID:22206859   PMID:22318658   PMID:22360420   PMID:22410258   PMID:22488673   PMID:22492246   PMID:22985558   PMID:23321059   PMID:23364391   PMID:23371454   PMID:23392373   PMID:23418544  
PMID:23489259   PMID:23594359   PMID:23624779   PMID:23626774   PMID:23634874   PMID:23743246   PMID:23746601   PMID:23826164   PMID:23827424   PMID:23845562   PMID:23903069   PMID:23911257  
PMID:23991052   PMID:24045243   PMID:24102621   PMID:24189400   PMID:24225433   PMID:24269023   PMID:24374936   PMID:24501781   PMID:24505052   PMID:24667434   PMID:24749759   PMID:24755947  
PMID:25128567   PMID:25139333   PMID:25178519   PMID:25341992   PMID:25416956   PMID:25613134   PMID:25640309   PMID:25726916   PMID:25760043   PMID:25846779   PMID:25859599   PMID:25904356  
PMID:25910212   PMID:25943894   PMID:26033239   PMID:26081945   PMID:26135781   PMID:26186194   PMID:26208460   PMID:26279003   PMID:26485083   PMID:26506232   PMID:26526443   PMID:26547005  
PMID:26742791   PMID:26786018   PMID:26871637   PMID:27016413   PMID:27018834   PMID:27097671   PMID:27107014   PMID:27141937   PMID:27229929   PMID:27312416   PMID:27319802   PMID:27488116  
PMID:27542412   PMID:27609520   PMID:27951536   PMID:28063220   PMID:28088366   PMID:28419863   PMID:28514442   PMID:28546444   PMID:28552414   PMID:28751552   PMID:28768252   PMID:28972406  
PMID:29074065   PMID:29128334   PMID:29193473   PMID:29196434   PMID:29229926   PMID:29308673   PMID:29382328   PMID:29484801   PMID:29563501   PMID:29715546   PMID:29746255   PMID:29845934  
PMID:29892012   PMID:30070096   PMID:30126635   PMID:30224549   PMID:30258100   PMID:30303809   PMID:30304049   PMID:30355500   PMID:30520434   PMID:30594925   PMID:30601636   PMID:30801815  
PMID:31004048   PMID:31051301   PMID:31132788   PMID:31234132   PMID:31327295   PMID:31480854   PMID:31484723   PMID:31501420   PMID:31515488   PMID:31586073   PMID:31682229   PMID:31857507  
PMID:31893463   PMID:32278699   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
GFAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1744,903,159 - 44,916,937 (-)EnsemblGRCh38hg38GRCh38
GRCh381744,903,159 - 44,915,552 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371742,982,994 - 42,992,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361740,338,519 - 40,348,394 (-)NCBINCBI36hg18NCBI36
Build 341740,338,518 - 40,348,394NCBI
Celera1739,693,499 - 39,703,421 (-)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,748,049 - 38,758,000 (-)NCBIHuRef
CHM1_11743,219,135 - 43,229,061 (-)NCBICHM1_1
Gfap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,778,162 - 102,791,368 (-)NCBI
GRCm3811102,887,336 - 102,897,200 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,887,336 - 102,900,912 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711102,748,650 - 102,758,514 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611102,704,767 - 102,713,221 (-)NCBImm8
Celera11114,598,382 - 114,608,239 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1166.48NCBI
Gfap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01090,990,762 - 90,999,435 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,990,762 - 90,999,506 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01090,763,150 - 90,771,823 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41092,059,881 - 92,068,555 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11092,074,249 - 92,082,949 (-)NCBI
Celera1086,555,367 - 86,564,160 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
RH 3.4 Map10920.49RGD
Gfap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,695,835 - 17,703,268 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,695,835 - 17,703,894 (-)NCBIChiLan1.0ChiLan1.0
GFAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11712,579,754 - 12,589,748 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1712,579,754 - 12,591,961 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01712,407,211 - 12,417,072 (+)NCBIMhudiblu_PPA_v0panPan3
GFAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl918,569,892 - 18,579,461 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1918,569,868 - 18,579,463 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gfap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365411,265,915 - 1,275,232 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,456,263 - 18,468,898 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,456,268 - 18,466,594 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21218,700,993 - 18,711,304 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GFAP
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11661,489,090 - 61,499,672 (+)NCBI
Gfap
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624795395,298 - 400,781 (+)NCBI

Position Markers
G10623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,983,003 - 42,983,241UniSTSGRCh37
Build 361740,338,529 - 40,338,767RGDNCBI36
Celera1739,693,509 - 39,693,747RGD
Cytogenetic Map17q21UniSTS
HuRef1738,748,058 - 38,748,296UniSTS
G60263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,983,299 - 42,983,621UniSTSGRCh37
Build 361740,338,825 - 40,339,147RGDNCBI36
Celera1739,693,805 - 39,694,127RGD
Cytogenetic Map17q21UniSTS
HuRef1738,748,354 - 38,748,676UniSTS
TNG Radiation Hybrid Map1720597.0UniSTS
D17S1334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,986,218 - 42,986,375UniSTSGRCh37
Build 361740,341,744 - 40,341,901RGDNCBI36
Celera1739,696,725 - 39,696,882RGD
Cytogenetic Map17q21UniSTS
HuRef1738,751,298 - 38,751,455UniSTS
SGC30523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,984,283 - 42,984,382UniSTSGRCh37
Build 361740,339,809 - 40,339,908RGDNCBI36
Celera1739,694,789 - 39,694,888RGD
Cytogenetic Map17q21UniSTS
HuRef1738,749,338 - 38,749,437UniSTS
GeneMap99-GB4 RH Map17327.62UniSTS
Whitehead-RH Map17361.2UniSTS
GFAP_102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,982,868 - 42,983,763UniSTSGRCh37
Build 361740,338,394 - 40,339,289RGDNCBI36
Celera1739,693,374 - 39,694,269RGD
HuRef1738,747,923 - 38,748,818UniSTS
RH66365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,983,147 - 42,983,278UniSTSGRCh37
Build 361740,338,673 - 40,338,804RGDNCBI36
Celera1739,693,653 - 39,693,784RGD
Cytogenetic Map17q21UniSTS
HuRef1738,748,202 - 38,748,333UniSTS
GeneMap99-GB4 RH Map17325.4UniSTS
RH78023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,982,544 - 42,982,668UniSTSGRCh37
Build 361740,338,070 - 40,338,194RGDNCBI36
Celera1739,693,050 - 39,693,174RGD
Cytogenetic Map17q21UniSTS
Cytogenetic Map17q21.31UniSTS
HuRef1738,747,599 - 38,747,723UniSTS
GeneMap99-GB4 RH Map17327.32UniSTS
IB801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,983,025 - 42,983,119UniSTSGRCh37
Build 361740,338,551 - 40,338,645RGDNCBI36
Celera1739,693,531 - 39,693,625RGD
Cytogenetic Map17q21UniSTS
HuRef1738,748,080 - 38,748,174UniSTS
Stanford-G3 RH Map171792.0UniSTS
GeneMap99-G3 RH Map172293.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8432
Count of miRNA genes:1251
Interacting mature miRNAs:1633
Transcripts:ENST00000253408, ENST00000376990, ENST00000435360, ENST00000585543, ENST00000585728, ENST00000586125, ENST00000586127, ENST00000586793, ENST00000587997, ENST00000588037, ENST00000588316, ENST00000588640, ENST00000588735, ENST00000588957, ENST00000589701, ENST00000590922, ENST00000591327, ENST00000591719, ENST00000591880, ENST00000592065, ENST00000592320, ENST00000592706, ENST00000593179
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 1 1 1446
Medium 11 41 162 1 7 1 325 11 1713 7 18 20 13 314
Low 1051 2222 922 182 528 83 2554 1152 508 160 809 911 103 959 1493
Below cutoff 1254 708 543 352 801 292 1403 972 44 220 553 569 69 1 232 971 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001131019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF419299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY142187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY142188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY142191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF341765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF526347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM687259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM931499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS088769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA254392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA315956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ979832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC214884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M67446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S40719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253408   ⟹   ENSP00000253408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,905,645 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000376990   ⟹   ENSP00000366189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,911,303 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000435360   ⟹   ENSP00000403962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,909,667 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000441312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,188 - 44,910,115 (-)Ensembl
RefSeq Acc Id: ENST00000585543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,907,205 - 44,911,515 (-)Ensembl
RefSeq Acc Id: ENST00000585728   ⟹   ENSP00000465208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,913,313 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000586125   ⟹   ENSP00000467397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,905,714 - 44,911,297 (-)Ensembl
RefSeq Acc Id: ENST00000586127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,910,637 - 44,915,078 (-)Ensembl
RefSeq Acc Id: ENST00000586793   ⟹   ENSP00000468500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,910,647 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000587997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,910,653 - 44,913,696 (-)Ensembl
RefSeq Acc Id: ENST00000588037   ⟹   ENSP00000466163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,913,799 - 44,915,503 (-)Ensembl
RefSeq Acc Id: ENST00000588316   ⟹   ENSP00000465629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,911,697 - 44,915,488 (-)Ensembl
RefSeq Acc Id: ENST00000588640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,908,135 - 44,912,934 (-)Ensembl
RefSeq Acc Id: ENST00000588735   ⟹   ENSP00000466598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,159 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000588957   ⟹   ENSP00000465565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,911,674 - 44,915,951 (-)Ensembl
RefSeq Acc Id: ENST00000589701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,906,885 - 44,910,227 (-)Ensembl
RefSeq Acc Id: ENST00000590922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,911,672 - 44,913,698 (-)Ensembl
RefSeq Acc Id: ENST00000591327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,909,685 - 44,915,499 (-)Ensembl
RefSeq Acc Id: ENST00000591719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,911,412 - 44,912,767 (-)Ensembl
RefSeq Acc Id: ENST00000591880   ⟹   ENSP00000467530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,907,317 - 44,911,292 (-)Ensembl
RefSeq Acc Id: ENST00000592065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,236 - 44,908,688 (-)Ensembl
RefSeq Acc Id: ENST00000592320   ⟹   ENSP00000465320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,910,618 - 44,915,504 (-)Ensembl
RefSeq Acc Id: ENST00000592706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,906,939 - 44,909,752 (-)Ensembl
RefSeq Acc Id: ENST00000593179   ⟹   ENSP00000467106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,915,461 - 44,916,937 (-)Ensembl
RefSeq Acc Id: ENST00000638281   ⟹   ENSP00000491088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,909,687 - 44,915,486 (-)Ensembl
RefSeq Acc Id: ENST00000638304   ⟹   ENSP00000491042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,187 - 44,911,281 (-)Ensembl
RefSeq Acc Id: ENST00000638400   ⟹   ENSP00000491466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,254 - 44,910,620 (-)Ensembl
RefSeq Acc Id: ENST00000638488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,230 - 44,911,303 (-)Ensembl
RefSeq Acc Id: ENST00000638618   ⟹   ENSP00000492832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,906,088 - 44,915,141 (-)Ensembl
RefSeq Acc Id: ENST00000638921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,905,631 - 44,908,247 (-)Ensembl
RefSeq Acc Id: ENST00000639042   ⟹   ENSP00000492860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,314 - 44,911,299 (-)Ensembl
RefSeq Acc Id: ENST00000639243   ⟹   ENSP00000491375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,198 - 44,908,076 (-)Ensembl
RefSeq Acc Id: ENST00000639277   ⟹   ENSP00000492432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,161 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000639369   ⟹   ENSP00000491243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,234 - 44,910,635 (-)Ensembl
RefSeq Acc Id: ENST00000639921   ⟹   ENSP00000492156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,909,733 - 44,911,319 (-)Ensembl
RefSeq Acc Id: ENST00000640545   ⟹   ENSP00000491735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,904,080 - 44,908,126 (-)Ensembl
RefSeq Acc Id: ENST00000640552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,908,227 - 44,915,500 (-)Ensembl
RefSeq Acc Id: ENST00000640859   ⟹   ENSP00000492300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,903,241 - 44,908,134 (-)Ensembl
RefSeq Acc Id: NM_001131019   ⟹   NP_001124491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,909,672 - 44,915,500 (-)NCBI
GRCh371742,982,994 - 42,992,920 (-)ENTREZGENE
HuRef1738,748,049 - 38,758,000 (-)ENTREZGENE
CHM1_11743,223,176 - 43,229,061 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242376   ⟹   NP_001229305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,909,672 - 44,915,500 (-)NCBI
GRCh371742,982,994 - 42,992,920 (-)ENTREZGENE
HuRef1738,748,049 - 38,758,000 (-)ENTREZGENE
CHM1_11743,223,176 - 43,229,061 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363846   ⟹   NP_001350775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,905,626 - 44,915,500 (-)NCBI
RefSeq Acc Id: NM_002055   ⟹   NP_002046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,903,159 - 44,915,500 (-)NCBI
GRCh371742,982,994 - 42,992,920 (-)ENTREZGENE
Build 361740,338,519 - 40,348,394 (-)NCBI Archive
HuRef1738,748,049 - 38,758,000 (-)ENTREZGENE
CHM1_11743,219,135 - 43,229,061 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450690   ⟹   XP_024306458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,905,630 - 44,915,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450691   ⟹   XP_024306459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,909,670 - 44,915,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450692   ⟹   XP_024306460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,905,627 - 44,915,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450693   ⟹   XP_024306461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,909,672 - 44,915,552 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001124491 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350775 (Get FASTA)   NCBI Sequence Viewer  
  NP_002046 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306458 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306459 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306460 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306461 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52528 (Get FASTA)   NCBI Sequence Viewer  
  AAA52529 (Get FASTA)   NCBI Sequence Viewer  
  AAB22581 (Get FASTA)   NCBI Sequence Viewer  
  AAH13596 (Get FASTA)   NCBI Sequence Viewer  
  AAH41765 (Get FASTA)   NCBI Sequence Viewer  
  AAH62609 (Get FASTA)   NCBI Sequence Viewer  
  AAI27872 (Get FASTA)   NCBI Sequence Viewer  
  AAL16662 (Get FASTA)   NCBI Sequence Viewer  
  AAN87903 (Get FASTA)   NCBI Sequence Viewer  
  AAN87904 (Get FASTA)   NCBI Sequence Viewer  
  AAN87907 (Get FASTA)   NCBI Sequence Viewer  
  ABL14186 (Get FASTA)   NCBI Sequence Viewer  
  BAC87610 (Get FASTA)   NCBI Sequence Viewer  
  BAD96403 (Get FASTA)   NCBI Sequence Viewer  
  BAG37791 (Get FASTA)   NCBI Sequence Viewer  
  BAG58573 (Get FASTA)   NCBI Sequence Viewer  
  BAG58972 (Get FASTA)   NCBI Sequence Viewer  
  BAG64704 (Get FASTA)   NCBI Sequence Viewer  
  BBA18129 (Get FASTA)   NCBI Sequence Viewer  
  CAB61354 (Get FASTA)   NCBI Sequence Viewer  
  CAC69881 (Get FASTA)   NCBI Sequence Viewer  
  CAI99149 (Get FASTA)   NCBI Sequence Viewer  
  EAW51567 (Get FASTA)   NCBI Sequence Viewer  
  EAW51568 (Get FASTA)   NCBI Sequence Viewer  
  EAW51569 (Get FASTA)   NCBI Sequence Viewer  
  EAW51570 (Get FASTA)   NCBI Sequence Viewer  
  EAW51571 (Get FASTA)   NCBI Sequence Viewer  
  P14136 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002046   ⟸   NM_002055
- Peptide Label: isoform 1
- UniProtKB: P14136 (UniProtKB/Swiss-Prot),   K7EMP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124491   ⟸   NM_001131019
- Peptide Label: isoform 2
- UniProtKB: P14136 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229305   ⟸   NM_001242376
- Peptide Label: isoform 3
- UniProtKB: P14136 (UniProtKB/Swiss-Prot),   A7REI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306460   ⟸   XM_024450692
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306458   ⟸   XM_024450690
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306459   ⟸   XM_024450691
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024306461   ⟸   XM_024450693
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001350775   ⟸   NM_001363846
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000253408   ⟸   ENST00000253408
RefSeq Acc Id: ENSP00000492832   ⟸   ENST00000638618
RefSeq Acc Id: ENSP00000491466   ⟸   ENST00000638400
RefSeq Acc Id: ENSP00000491042   ⟸   ENST00000638304
RefSeq Acc Id: ENSP00000491088   ⟸   ENST00000638281
RefSeq Acc Id: ENSP00000465208   ⟸   ENST00000585728
RefSeq Acc Id: ENSP00000492156   ⟸   ENST00000639921
RefSeq Acc Id: ENSP00000491375   ⟸   ENST00000639243
RefSeq Acc Id: ENSP00000492432   ⟸   ENST00000639277
RefSeq Acc Id: ENSP00000492860   ⟸   ENST00000639042
RefSeq Acc Id: ENSP00000491243   ⟸   ENST00000639369
RefSeq Acc Id: ENSP00000467397   ⟸   ENST00000586125
RefSeq Acc Id: ENSP00000468500   ⟸   ENST00000586793
RefSeq Acc Id: ENSP00000366189   ⟸   ENST00000376990
RefSeq Acc Id: ENSP00000466163   ⟸   ENST00000588037
RefSeq Acc Id: ENSP00000465629   ⟸   ENST00000588316
RefSeq Acc Id: ENSP00000465565   ⟸   ENST00000588957
RefSeq Acc Id: ENSP00000466598   ⟸   ENST00000588735
RefSeq Acc Id: ENSP00000492300   ⟸   ENST00000640859
RefSeq Acc Id: ENSP00000491735   ⟸   ENST00000640545
RefSeq Acc Id: ENSP00000467530   ⟸   ENST00000591880
RefSeq Acc Id: ENSP00000403962   ⟸   ENST00000435360
RefSeq Acc Id: ENSP00000465320   ⟸   ENST00000592320
RefSeq Acc Id: ENSP00000467106   ⟸   ENST00000593179
Protein Domains
Filament_head   IF rod

Promoters
RGD ID:7235299
Promoter ID:EPDNEW_H23395
Type:initiation region
Name:GFAP_2
Description:glial fibrillary acidic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23396  EPDNEW_H23397  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,911,519 - 44,911,579EPDNEW
RGD ID:7235301
Promoter ID:EPDNEW_H23396
Type:initiation region
Name:GFAP_1
Description:glial fibrillary acidic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23395  EPDNEW_H23397  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,915,500 - 44,915,560EPDNEW
RGD ID:7235305
Promoter ID:EPDNEW_H23397
Type:multiple initiation site
Name:GFAP_3
Description:glial fibrillary acidic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23395  EPDNEW_H23396  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,916,555 - 44,916,615EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002055.5(GFAP):c.1220A>T (p.Asn407Ile) single nucleotide variant not provided [RCV000521369] Chr17:44908101 [GRCh38]
Chr17:42985469 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg) single nucleotide variant not provided [RCV000254720] Chr17:44911360 [GRCh38]
Chr17:42988728 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) single nucleotide variant Alexander Disease [RCV000017550]|not provided [RCV000056898] Chr17:44913334 [GRCh38]
Chr17:42990702 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.716G>A (p.Arg239His) single nucleotide variant Alexander Disease [RCV000017551]|not provided [RCV000056899] Chr17:44913333 [GRCh38]
Chr17:42990701 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) single nucleotide variant Alexander Disease [RCV000017552]|not provided [RCV000056848] Chr17:44908075 [GRCh38]
Chr17:42985443 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.236G>A (p.Arg79His) single nucleotide variant Alexander Disease [RCV000017553]|not provided [RCV000056869] Chr17:44915251 [GRCh38]
Chr17:42992619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) single nucleotide variant Alexander Disease [RCV000017554]|not provided [RCV000056868] Chr17:44915252 [GRCh38]
Chr17:42992620 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) single nucleotide variant Alexander Disease [RCV000017555]|not provided [RCV000056879] Chr17:44915225 [GRCh38]
Chr17:42992593 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) single nucleotide variant Alexander Disease [RCV000017556]|not provided [RCV000056878] Chr17:44915225 [GRCh38]
Chr17:42992593 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) single nucleotide variant Alexander Disease [RCV000017557]|not provided [RCV000056863] Chr17:44915261 [GRCh38]
Chr17:42992629 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) single nucleotide variant Alexander Disease [RCV000017558]|not provided [RCV000056864] Chr17:44915258 [GRCh38]
Chr17:42992626 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) single nucleotide variant Alexander Disease [RCV000017559]|not provided [RCV000056825] Chr17:44911277 [GRCh38]
Chr17:42988645 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) single nucleotide variant Alexander Disease [RCV000017560]|not provided [RCV000056910] Chr17:44911751 [GRCh38]
Chr17:42989119 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) single nucleotide variant Alexander Disease [RCV000017561]|not provided [RCV000056820] Chr17:44911308 [GRCh38]
Chr17:42988676 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu) single nucleotide variant Alexander Disease [RCV000017562] Chr17:44915253 [GRCh38]
Chr17:42992621 [GRCh37]
Chr17:17q21.31
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3 copy number gain See cases [RCV000054045] Chr17:44906235..45220406 [GRCh38]
Chr17:42983603..43297773 [GRCh37]
Chr17:40339129..40653556 [NCBI36]
Chr17:17q21.31
uncertain significance
NM_002055.4(GFAP):c.1176C>A (p.Thr392=) single nucleotide variant Malignant melanoma [RCV000071516] Chr17:44908145 [GRCh38]
Chr17:42985513 [GRCh37]
Chr17:40341039 [NCBI36]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.*28C>G single nucleotide variant Primary ciliary dyskinesia [RCV000401615]|not provided [RCV000056816] Chr17:44907319 [GRCh38]
Chr17:42984687 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002055.5(GFAP):c.*32C>G single nucleotide variant not provided [RCV000056817] Chr17:44907315 [GRCh38]
Chr17:42984683 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.4(GFAP):c.-518T>A single nucleotide variant not provided [RCV000056819] Chr17:44916004 [GRCh38]
Chr17:42993372 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) single nucleotide variant Alexander Disease [RCV000192157]|not provided [RCV000056821] Chr17:44911293 [GRCh38]
Chr17:42988661 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) single nucleotide variant Alexander Disease [RCV000192160]|not provided [RCV000056822] Chr17:44911288 [GRCh38]
Chr17:42988656 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) single nucleotide variant Alexander Disease [RCV000192161]|not provided [RCV000056823] Chr17:44911287 [GRCh38]
Chr17:42988655 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) single nucleotide variant Alexander Disease [RCV000192162]|not provided [RCV000056824] Chr17:44911284 [GRCh38]
Chr17:42988652 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) single nucleotide variant Alexander Disease [RCV000192165]|not provided [RCV000056826] Chr17:44911273 [GRCh38]
Chr17:42988641 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) single nucleotide variant Alexander Disease [RCV000192166]|not provided [RCV000056827] Chr17:44911272 [GRCh38]
Chr17:42988640 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) single nucleotide variant Alexander Disease [RCV000192167]|not provided [RCV000056828] Chr17:44911267 [GRCh38]
Chr17:42988635 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) single nucleotide variant Alexander Disease [RCV000192168]|not provided [RCV000056829] Chr17:44911266 [GRCh38]
Chr17:42988634 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) single nucleotide variant Alexander Disease [RCV000192169]|not provided [RCV000056830] Chr17:44911252 [GRCh38]
Chr17:42988620 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) single nucleotide variant Alexander Disease [RCV000192170]|not provided [RCV000056831] Chr17:44911251 [GRCh38]
Chr17:42988619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) single nucleotide variant Alexander Disease [RCV000192171]|not provided [RCV000056832] Chr17:44911251 [GRCh38]
Chr17:42988619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) single nucleotide variant Alexander Disease [RCV000192173]|not provided [RCV000056833] Chr17:44911246 [GRCh38]
Chr17:42988614 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) single nucleotide variant Alexander Disease [RCV000192174]|not provided [RCV000056834] Chr17:44911246 [GRCh38]
Chr17:42988614 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) single nucleotide variant Alexander Disease [RCV000192176]|not provided [RCV000056835] Chr17:44911242 [GRCh38]
Chr17:42988610 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1126C>G (p.Arg376Gly) single nucleotide variant not provided [RCV000056836] Chr17:44911237 [GRCh38]
Chr17:42988605 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) single nucleotide variant Alexander Disease [RCV000192177]|not provided [RCV000056837] Chr17:44911237 [GRCh38]
Chr17:42988605 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1128-151C>T single nucleotide variant not provided [RCV000056838] Chr17:44910809 [GRCh38]
Chr17:42988177 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1128-66C>G single nucleotide variant not provided [RCV000056839] Chr17:44910724 [GRCh38]
Chr17:42988092 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1140C>T (p.Pro380=) single nucleotide variant not provided [RCV000056840] Chr17:44910646 [GRCh38]
Chr17:42988014 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) single nucleotide variant Alexander Disease [RCV000192178]|not provided [RCV000056841] Chr17:44910638 [GRCh38]
Chr17:42988006 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) single nucleotide variant Alexander Disease [RCV000192181]|not provided [RCV000056842] Chr17:44910629 [GRCh38]
Chr17:42987997 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1171+471C>T single nucleotide variant not provided [RCV000056843]|not specified [RCV000517076] Chr17:44910144 [GRCh38]
Chr17:42987512 [GRCh37]
Chr17:17q21.31
benign|not provided
NM_002055.5(GFAP):c.1171+501C>A single nucleotide variant not provided [RCV000056844] Chr17:44910114 [GRCh38]
Chr17:42987482 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1172-306A>G single nucleotide variant not provided [RCV000056845] Chr17:44908455 [GRCh38]
Chr17:42985823 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) single nucleotide variant Alexander Disease [RCV000192182]|not provided [RCV000056846] Chr17:44908143 [GRCh38]
Chr17:42985511 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) single nucleotide variant Alexander Disease [RCV000192184]|not provided [RCV000056847] Chr17:44908128 [GRCh38]
Chr17:42985496 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) single nucleotide variant Alexander Disease [RCV000192186]|not provided [RCV000056849] Chr17:44908071 [GRCh38]
Chr17:42985439 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.1258-86C>T single nucleotide variant not provided [RCV000056850] Chr17:44907474 [GRCh38]
Chr17:42984842 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) single nucleotide variant Alexander Disease [RCV000192188]|not provided [RCV000056851] Chr17:44907369 [GRCh38]
Chr17:42984737 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) single nucleotide variant Alexander Disease [RCV000263951]|Inborn genetic diseases [RCV000210687]|not provided [RCV000056852] Chr17:44915347 [GRCh38]
Chr17:42992715 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002055.5(GFAP):c.141G>A (p.Pro47=) single nucleotide variant not provided [RCV000056853] Chr17:44915346 [GRCh38]
Chr17:42992714 [GRCh37]
Chr17:17q21.31
benign|not provided
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) single nucleotide variant Alexander Disease [RCV000192096]|not provided [RCV000056854] Chr17:44915300 [GRCh38]
Chr17:42992668 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) single nucleotide variant Alexander Disease [RCV000192100]|not provided [RCV000056855] Chr17:44915279 [GRCh38]
Chr17:42992647 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) single nucleotide variant Alexander Disease [RCV000192099]|not provided [RCV000056856] Chr17:44915278 [GRCh38]
Chr17:42992646 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance|not provided
NM_002055.5(GFAP):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV000056857] Chr17:44915276 [GRCh38]
Chr17:42992644 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) single nucleotide variant Alexander Disease [RCV000192101]|not provided [RCV000056858] Chr17:44915273 [GRCh38]
Chr17:42992641 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) single nucleotide variant Alexander Disease [RCV000192105]|not provided [RCV000056859] Chr17:44915269 [GRCh38]
Chr17:42992637 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.218T>G (p.Met73Arg) single nucleotide variant Alexander Disease [RCV000192104]|not provided [RCV000056860] Chr17:44915269 [GRCh38]
Chr17:42992637 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.221T>C (p.Met74Thr) single nucleotide variant Alexander Disease [RCV000192102]|not provided [RCV000056861] Chr17:44915266 [GRCh38]
Chr17:42992634 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.226C>G (p.Leu76Val) single nucleotide variant Alexander Disease [RCV000192106]|not provided [RCV000056862] Chr17:44915261 [GRCh38]
Chr17:42992629 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) single nucleotide variant Alexander Disease [RCV000192107]|not provided [RCV000056865] Chr17:44915257 [GRCh38]
Chr17:42992625 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.235C>A (p.Arg79Ser) single nucleotide variant not provided [RCV000056866] Chr17:44915252 [GRCh38]
Chr17:42992620 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) single nucleotide variant Alexander Disease [RCV000192109]|not provided [RCV000056867] Chr17:44915252 [GRCh38]
Chr17:42992620 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro) single nucleotide variant Alexander Disease [RCV000192111]|not provided [RCV000056870] Chr17:44915251 [GRCh38]
Chr17:42992619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) single nucleotide variant Alexander Disease [RCV000192112]|not provided [RCV000056871] Chr17:44915251 [GRCh38]
Chr17:42992619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) single nucleotide variant Alexander Disease [RCV000192114]|not provided [RCV000056872] Chr17:44915240 [GRCh38]
Chr17:42992608 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.248A>C (p.Tyr83Ser) single nucleotide variant not provided [RCV000056873] Chr17:44915239 [GRCh38]
Chr17:42992607 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) indel Alexander Disease [RCV000192116]|not provided [RCV000056874] Chr17:44915228..44915231 [GRCh38]
Chr17:42992596..42992599 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.257A>G (p.Lys86Arg) single nucleotide variant not provided [RCV000056875] Chr17:44915230 [GRCh38]
Chr17:42992598 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) single nucleotide variant Alexander Disease [RCV000192118]|not provided [RCV000056876] Chr17:44915228 [GRCh38]
Chr17:42992596 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.260T>G (p.Val87Gly) single nucleotide variant Alexander Disease [RCV000192119]|not provided [RCV000056877] Chr17:44915227 [GRCh38]
Chr17:42992595 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro) single nucleotide variant Alexander Disease [RCV000192120]|not provided [RCV000056880] Chr17:44915218 [GRCh38]
Chr17:42992586 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) single nucleotide variant Alexander Disease [RCV000192122]|not provided [RCV000056881] Chr17:44915197 [GRCh38]
Chr17:42992565 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) single nucleotide variant Alexander Disease [RCV000192123]|not provided [RCV000056882] Chr17:44915185 [GRCh38]
Chr17:42992553 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.343G>A (p.Val115Ile) single nucleotide variant not provided [RCV000056883] Chr17:44915144 [GRCh38]
Chr17:42992512 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.343G>T (p.Val115Phe) single nucleotide variant not provided [RCV000056884] Chr17:44915144 [GRCh38]
Chr17:42992512 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) single nucleotide variant Alexander Disease [RCV000192126]|not provided [RCV000056885] Chr17:44915105 [GRCh38]
Chr17:42992473 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV000056886] Chr17:44914081 [GRCh38]
Chr17:42991449 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002055.5(GFAP):c.523-76G>C single nucleotide variant not provided [RCV000056887] Chr17:44913899 [GRCh38]
Chr17:42991267 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.523-9C>G single nucleotide variant not provided [RCV000056888] Chr17:44913832 [GRCh38]
Chr17:42991200 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) single nucleotide variant Alexander Disease [RCV000192127]|not provided [RCV000056889] Chr17:44913733 [GRCh38]
Chr17:42991101 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.619-12C>T single nucleotide variant not provided [RCV000056890] Chr17:44913442 [GRCh38]
Chr17:42990810 [GRCh37]
Chr17:17q21.31
benign|not provided
NM_002055.5(GFAP):c.619-96G>T single nucleotide variant not provided [RCV000056891] Chr17:44913526 [GRCh38]
Chr17:42990894 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) single nucleotide variant Alexander Disease [RCV000192128]|not provided [RCV000056892] Chr17:44913430 [GRCh38]
Chr17:42990798 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) single nucleotide variant Alexander Disease [RCV000192129]|not provided [RCV000056893] Chr17:44913430 [GRCh38]
Chr17:42990798 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) single nucleotide variant Alexander Disease [RCV000192130]|not provided [RCV000056894] Chr17:44913421 [GRCh38]
Chr17:42990789 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) single nucleotide variant Alexander Disease [RCV000192131]|Global developmental delay [RCV001198937]|not provided [RCV000056895] Chr17:44913382 [GRCh38]
Chr17:42990750 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance|not provided
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) single nucleotide variant Alexander Disease [RCV000192133]|not provided [RCV000056896] Chr17:44913345 [GRCh38]
Chr17:42990713 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) single nucleotide variant Alexander Disease [RCV000192134]|not provided [RCV000056897] Chr17:44913342 [GRCh38]
Chr17:42990710 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro) single nucleotide variant Alexander Disease [RCV000192136]|not provided [RCV000056900] Chr17:44913333 [GRCh38]
Chr17:42990701 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) single nucleotide variant Alexander Disease [RCV000192137]|not provided [RCV000056901] Chr17:44913333 [GRCh38]
Chr17:42990701 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) single nucleotide variant Alexander Disease [RCV000192138]|not provided [RCV000056902] Chr17:44913325 [GRCh38]
Chr17:42990693 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.731C>T (p.Ala244Val) single nucleotide variant Alexander Disease [RCV000192139]|not provided [RCV000056903] Chr17:44913318 [GRCh38]
Chr17:42990686 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) single nucleotide variant Alexander Disease [RCV000192140]|not provided [RCV000056904] Chr17:44913310 [GRCh38]
Chr17:42990678 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) single nucleotide variant Alexander Disease [RCV000192141]|not provided [RCV000056905] Chr17:44913291 [GRCh38]
Chr17:42990659 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.759C>T (p.Ala253=) single nucleotide variant not provided [RCV000056906] Chr17:44913290 [GRCh38]
Chr17:42990658 [GRCh37]
Chr17:17q21.31
likely benign|not provided
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) single nucleotide variant Alexander Disease [RCV000192142]|not provided [RCV000056907] Chr17:44913279 [GRCh38]
Chr17:42990647 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) single nucleotide variant Alexander Disease [RCV000192144]|not provided [RCV000056908] Chr17:44913276 [GRCh38]
Chr17:42990644 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.780+646G>A single nucleotide variant not provided [RCV000056909] Chr17:44912623 [GRCh38]
Chr17:42989991 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) single nucleotide variant Alexander Disease [RCV000192149]|not provided [RCV000056911] Chr17:44911743 [GRCh38]
Chr17:42989111 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.858G>A (p.Arg286=) single nucleotide variant not provided [RCV000056912] Chr17:44911720 [GRCh38]
Chr17:42989088 [GRCh37]
Chr17:17q21.31
benign|not provided
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) single nucleotide variant not provided [RCV000056913] Chr17:44911695 [GRCh38]
Chr17:42989063 [GRCh37]
Chr17:17q21.31
benign|not provided
NM_002055.5(GFAP):c.906+81A>G single nucleotide variant not provided [RCV000056914] Chr17:44911591 [GRCh38]
Chr17:42988959 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.907-100A>C single nucleotide variant not provided [RCV000056915] Chr17:44911556 [GRCh38]
Chr17:42988924 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.96T>C (p.Gly32=) single nucleotide variant not provided [RCV000056916]|not specified [RCV000439185] Chr17:44915391 [GRCh38]
Chr17:42992759 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002055.5(GFAP):c.988C>G (p.Arg330Gly) single nucleotide variant not provided [RCV000056917] Chr17:44911375 [GRCh38]
Chr17:42988743 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) single nucleotide variant Alexander Disease [RCV000192153]|not provided [RCV000056918] Chr17:44911371 [GRCh38]
Chr17:42988739 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) single nucleotide variant Alexander Disease [RCV000192154]|not provided [RCV000056919] Chr17:44911369 [GRCh38]
Chr17:42988737 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_213607.2(CCDC103):c.624G>A (p.Lys208=) single nucleotide variant Malignant melanoma [RCV000071514] Chr17:44902712 [GRCh38]
Chr17:42980080 [GRCh37]
Chr17:40335606 [NCBI36]
Chr17:17q21.31
not provided
NM_213607.2(CCDC103):c.625G>A (p.Glu209Lys) single nucleotide variant Malignant melanoma [RCV000071515] Chr17:44902713 [GRCh38]
Chr17:42980081 [GRCh37]
Chr17:40335607 [NCBI36]
Chr17:17q21.31
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_002055.4(GFAP):c.-264C>A single nucleotide variant not provided [RCV000056818] Chr17:44915750 [GRCh38]
Chr17:42993118 [GRCh37]
Chr17:17q21.31
not provided
NM_002055.5(GFAP):c.433G>A (p.Ala145Thr) single nucleotide variant not provided [RCV000514209] Chr17:44915054 [GRCh38]
Chr17:42992422 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) single nucleotide variant Alexander Disease [RCV000192097] Chr17:44915290 [GRCh38]
Chr17:42992658 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) single nucleotide variant Alexander Disease [RCV000192098]|not provided [RCV001200224] Chr17:44915282 [GRCh38]
Chr17:42992650 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) single nucleotide variant Alexander Disease [RCV000192103] Chr17:44915269 [GRCh38]
Chr17:42992637 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.232G>A (p.Asp78Asn) single nucleotide variant Alexander Disease [RCV000192108] Chr17:44915255 [GRCh38]
Chr17:42992623 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.239T>C (p.Phe80Ser) single nucleotide variant Alexander Disease [RCV000192113] Chr17:44915248 [GRCh38]
Chr17:42992616 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.256A>G (p.Lys86Glu) single nucleotide variant Alexander Disease [RCV000192115] Chr17:44915231 [GRCh38]
Chr17:42992599 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) single nucleotide variant Alexander Disease [RCV000192117] Chr17:44915228 [GRCh38]
Chr17:42992596 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.278A>C (p.Gln93Pro) single nucleotide variant Alexander Disease [RCV000192121] Chr17:44915209 [GRCh38]
Chr17:42992577 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.692T>A (p.Leu231His) single nucleotide variant Alexander Disease [RCV000192132] Chr17:44913357 [GRCh38]
Chr17:42990725 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) single nucleotide variant Alexander Disease [RCV000192135]|not specified [RCV000517981] Chr17:44913334 [GRCh38]
Chr17:42990702 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) single nucleotide variant Alexander Disease [RCV000192143] Chr17:44913277 [GRCh38]
Chr17:42990645 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) single nucleotide variant Alexander Disease [RCV000192145] Chr17:44911787 [GRCh38]
Chr17:42989155 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro) indel Alexander Disease [RCV000192146] Chr17:44911786..44911787 [GRCh38]
Chr17:42989154..42989155 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.799G>C (p.Ala267Pro) single nucleotide variant Alexander Disease [RCV000192147] Chr17:44911779 [GRCh38]
Chr17:42989147 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp) single nucleotide variant Alexander Disease [RCV000192148] Chr17:44911775 [GRCh38]
Chr17:42989143 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.868C>G (p.Gln290Glu) single nucleotide variant Alexander Disease [RCV000192150] Chr17:44911710 [GRCh38]
Chr17:42989078 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) single nucleotide variant Alexander Disease [RCV000192151] Chr17:44911429 [GRCh38]
Chr17:42988797 [GRCh37]
Chr17:17q21.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002055.5(GFAP):c.1051G>C (p.Asp351His) single nucleotide variant Alexander Disease [RCV000192156] Chr17:44911312 [GRCh38]
Chr17:42988680 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1073C>T (p.Ala358Val) single nucleotide variant Alexander Disease [RCV000192158] Chr17:44911290 [GRCh38]
Chr17:42988658 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1074C>G (p.Ala358=) single nucleotide variant Alexander Disease [RCV000192159] Chr17:44911289 [GRCh38]
Chr17:42988657 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) single nucleotide variant Alexander Disease [RCV000192163] Chr17:44911278 [GRCh38]
Chr17:42988646 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr) single nucleotide variant Alexander Disease [RCV000192164] Chr17:44911273 [GRCh38]
Chr17:42988641 [GRCh37]
Chr17:17q21.31
pathogenic
NP_002046.1(GFAP):p.Glu373Asp protein only Alexander Disease [RCV000192172] Chr17:17q21.31 pathogenic
NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala) single nucleotide variant Alexander Disease [RCV000192175] Chr17:44911245 [GRCh38]
Chr17:42988613 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe) single nucleotide variant Alexander Disease [RCV000192179] Chr17:44910632 [GRCh38]
Chr17:42988000 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) single nucleotide variant Alexander Disease [RCV000192180]|not provided [RCV000479686] Chr17:44910632 [GRCh38]
Chr17:42988000 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) single nucleotide variant Alexander Disease [RCV000192183] Chr17:44908128 [GRCh38]
Chr17:42985496 [GRCh37]
Chr17:17q21.31
pathogenic
NP_002046.1(GFAP):p.Met415Ile protein only Alexander Disease [RCV000192185] Chr17:17q21.31 pathogenic
NM_002055.5(GFAP):c.1249del (p.Asp417fs) deletion Alexander Disease [RCV000192187] Chr17:44908072 [GRCh38]
Chr17:42985440 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC indel Alexander Disease [RCV000192189] Chr17:44910133..44910140 [GRCh38]
Chr17:42987501..42987508 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.619-3C>G single nucleotide variant Alexander Disease [RCV000192191] Chr17:44913433 [GRCh38]
Chr17:42990801 [GRCh37]
Chr17:17q21.31
pathogenic
NP_002046.1:p.Phe261_Thr302del deletion Alexander Disease [RCV000192192] Chr17:17q21.31 pathogenic
NM_002055.5(GFAP):c.365_373dup (p.Leu125_Arg126insGlnLeuArg) duplication Alexander Disease [RCV000192124] Chr17:44915113..44915114 [GRCh38]
Chr17:42992481..42992482 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.369_374GCGGCT[3] (p.124_125RL[3]) microsatellite Alexander Disease [RCV000192125] Chr17:44915106..44915107 [GRCh38]
Chr17:42992474..42992475 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Gln350_Asp351insHisLeu) insertion Alexander Disease [RCV000192155] Chr17:44911313..44911314 [GRCh38]
Chr17:42988681..42988682 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002055.5(GFAP):c.1171+472G>A single nucleotide variant Alexander Disease [RCV000192190]|not provided [RCV000479024] Chr17:44910143 [GRCh38]
Chr17:42987511 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_002055.5(GFAP):c.235del (p.Arg79fs) deletion Inborn genetic diseases [RCV000210555] Chr17:44915252 [GRCh38]
Chr17:42992620 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.906+7G>A single nucleotide variant not provided [RCV000487573] Chr17:44911665 [GRCh38]
Chr17:42989033 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) single nucleotide variant not provided [RCV000963954]|not specified [RCV000604563] Chr17:44915174 [GRCh38]
Chr17:42992542 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.*1550C>A single nucleotide variant Alexander Disease [RCV000261939] Chr17:44905797 [GRCh38]
Chr17:42983165 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.738G>A (p.Ala246=) single nucleotide variant not provided [RCV000675412] Chr17:44913311 [GRCh38]
Chr17:42990679 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.957G>A (p.Arg319=) single nucleotide variant not provided [RCV000711800] Chr17:44911406 [GRCh38]
Chr17:42988774 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.42C>T (p.Tyr14=) single nucleotide variant not provided [RCV000879726] Chr17:44915445 [GRCh38]
Chr17:42992813 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) single nucleotide variant not provided [RCV000487859] Chr17:44911685 [GRCh38]
Chr17:42989053 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.1262T>C (p.Ile421Thr) single nucleotide variant not provided [RCV000487924] Chr17:44907384 [GRCh38]
Chr17:42984752 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.1171+420C>T single nucleotide variant Alexander Disease [RCV000490317] Chr17:44910195 [GRCh38]
Chr17:42987563 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.936G>A (p.Glu312=) single nucleotide variant not provided [RCV000488291] Chr17:44911427 [GRCh38]
Chr17:42988795 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.342C>A (p.Asp114Glu) single nucleotide variant not provided [RCV000894280]|not specified [RCV000434385] Chr17:44915145 [GRCh38]
Chr17:42992513 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.947G>A (p.Arg316Gln) single nucleotide variant Alexander Disease [RCV000331002] Chr17:44911416 [GRCh38]
Chr17:42988784 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*742C>T single nucleotide variant Alexander Disease [RCV000346457] Chr17:44906605 [GRCh38]
Chr17:42983973 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) single nucleotide variant Alexander Disease [RCV000363054]|not provided [RCV000675417] Chr17:44915158 [GRCh38]
Chr17:42992526 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.*1014G>A single nucleotide variant Alexander Disease [RCV000381286] Chr17:44906333 [GRCh38]
Chr17:42983701 [GRCh37]
Chr17:17q21.31
likely benign
NM_001363846.1(GFAP):c.-34C>T single nucleotide variant Alexander Disease [RCV000315864] Chr17:44915520 [GRCh38]
Chr17:42992888 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*30G>A single nucleotide variant Alexander Disease [RCV000401586] Chr17:44907317 [GRCh38]
Chr17:42984685 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*1629C>T single nucleotide variant Alexander Disease [RCV000325735] Chr17:44905718 [GRCh38]
Chr17:42983086 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*1522T>C single nucleotide variant Primary ciliary dyskinesia [RCV000331524] Chr17:44905825 [GRCh38]
Chr17:42983193 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.*1001G>A single nucleotide variant Primary ciliary dyskinesia [RCV000332336] Chr17:44906346 [GRCh38]
Chr17:42983714 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.*1276C>T single nucleotide variant Alexander Disease [RCV000295169] Chr17:44906071 [GRCh38]
Chr17:42983439 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*1356C>T single nucleotide variant Alexander Disease [RCV000385705] Chr17:44905991 [GRCh38]
Chr17:42983359 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.381C>T (p.Leu127=) single nucleotide variant Alexander Disease [RCV000350534] Chr17:44915106 [GRCh38]
Chr17:42992474 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.720G>T (p.Thr240=) single nucleotide variant not provided [RCV000675413] Chr17:44913329 [GRCh38]
Chr17:42990697 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.619-9C>G single nucleotide variant not provided [RCV000675415] Chr17:44913439 [GRCh38]
Chr17:42990807 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002055.5(GFAP):c.179C>A (p.Ala60Asp) single nucleotide variant Alexander Disease [RCV000308696] Chr17:44915308 [GRCh38]
Chr17:42992676 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.462G>A (p.Lys154=) single nucleotide variant Alexander Disease [RCV000337717] Chr17:44914088 [GRCh38]
Chr17:42991456 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.*27C>T single nucleotide variant Alexander Disease [RCV000353322] Chr17:44907320 [GRCh38]
Chr17:42984688 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.352G>C (p.Ala118Pro) single nucleotide variant Alexander Disease [RCV000390156] Chr17:44915135 [GRCh38]
Chr17:42992503 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.*1285C>T single nucleotide variant Alexander Disease [RCV000386028] Chr17:44906062 [GRCh38]
Chr17:42983430 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.547C>T (p.Arg183Cys) single nucleotide variant Alexander Disease [RCV000372055] Chr17:44913799 [GRCh38]
Chr17:42991167 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002055.5(GFAP):c.*630G>A single nucleotide variant Alexander Disease [RCV000390405] Chr17:44906717 [GRCh38]
Chr17:42984085 [GRCh37]
Chr17:17q21.31
likely benign
NM_002055.5(GFAP):c.*16G>A single nucleotide variant Alexander Disease [RCV000391646]|not provided [RCV000675410] Chr17:44907331