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Analyze GeneStrainQTL List |
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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17beta-hydroxy-5alpha-androstan-3-one | decreases expression | EXP | | 6480464 | Dihydrotestosterone results in decreased expression of TMEM270 mRNA | CTD | PMID:17624924 | 3,4-methylenedioxymethamphetamine | increases expression | ISO | RGD:1321641 | 6480464 | N-Methyl-3, 4-methylenedioxyamphetamine results in increased expression of TMEM270 mRNA | CTD | PMID:20188158 | 6-propyl-2-thiouracil | increases expression | ISO | RGD:1561903 | 6480464 | Propylthiouracil results in increased expression of TMEM270 mRNA | CTD | PMID:24780913 | aflatoxin B1 | decreases methylation | EXP | | 6480464 | Aflatoxin B1 results in decreased methylation of TMEM270 intron | CTD | PMID:30157460 | arsane | affects methylation | EXP | | 6480464 | Arsenic affects the methylation of TMEM270 gene | CTD | PMID:25304211 | arsenic atom | affects methylation | EXP | | 6480464 | Arsenic affects the methylation of TMEM270 gene | CTD | PMID:25304211 | benzo[e]pyrene | decreases methylation | EXP | | 6480464 | benzo(e)pyrene results in decreased methylation of TMEM270 intron | CTD | PMID:30157460 | bisphenol A | decreases expression | ISO | RGD:1561903 | 6480464 | bisphenol A results in decreased expression of TMEM270 mRNA | CTD | PMID:25181051 | butanal | increases expression | EXP | | 6480464 | butyraldehyde results in increased expression of TMEM270 mRNA | CTD | PMID:26079696 | cadmium dichloride | increases expression | EXP | | 6480464 | Cadmium Chloride results in increased expression of TMEM270 mRNA | CTD | PMID:26472689 | cefaloridine | increases expression | ISO | RGD:1561903 | 6480464 | Cephaloridine results in increased expression of TMEM270 mRNA | CTD | PMID:18500788 | methapyrilene | decreases methylation | EXP | | 6480464 | Methapyrilene results in decreased methylation of TMEM270 intron | CTD | PMID:30157460 | paracetamol | affects expression | ISO | RGD:1321641 | 6480464 | Acetaminophen affects the expression of TMEM270 mRNA | CTD | PMID:17562736 | pentanal | increases expression | EXP | | 6480464 | pentanal results in increased expression of TMEM270 mRNA | CTD | PMID:26079696 | propanal | increases expression | EXP | | 6480464 | propionaldehyde results in increased expression of TMEM270 mRNA | CTD | PMID:26079696 | silicon dioxide | decreases expression | EXP | | 6480464 | Silicon Dioxide analog results in decreased expression of TMEM270 mRNA | CTD | PMID:25895662 | silver atom | increases expression | ISO | RGD:1321641 | 6480464 | Silver results in increased expression of TMEM270 mRNA | CTD | PMID:27131904 | silver(0) | increases expression | ISO | RGD:1321641 | 6480464 | Silver results in increased expression of TMEM270 mRNA | CTD | PMID:27131904 | |
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TMEM270 (Homo sapiens - human) |
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Tmem270 (Mus musculus - house mouse) |
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Tmem270 (Rattus norvegicus - Norway rat) |
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Tmem270 (Chinchilla lanigera - long-tailed chinchilla) |
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TMEM270 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TMEM270 (Canis lupus familiaris - dog) |
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Tmem270 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TMEM270 (Sus scrofa - pig) |
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RH99041 |
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G64384 |
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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. |
RefSeq Transcripts | NM_182504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011515785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017011741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA426067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC093168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY372053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY372054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC030643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC007380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC044591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_182504 ⟹ NP_872310 | |||||||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GCTTCTCCCAGCTGGAGTAGGTGGGGGAGGCCAGACATGGAGGCCCTTCCTCCAGTCAGATCCAhide sequence |
RefSeq Acc Id: | XM_011515785 ⟹ XP_011514087 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
AGCAATCCTCCCCCCTCAGCCTCCAAGTAGCCGGGACTATAGTTGGTTCAGAACCGAGATCACChide sequence |
RefSeq Acc Id: | XM_017011741 ⟹ XP_016867230 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
TGTTGCCCATGCTGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGChide sequence |
Protein RefSeqs | NP_872310 | (Get FASTA) | NCBI Sequence Viewer |
XP_011514087 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016867230 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH30643 | (Get FASTA) | NCBI Sequence Viewer |
AAQ74835 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ74836 | (Get FASTA) | NCBI Sequence Viewer | |
CBH19495 | (Get FASTA) | NCBI Sequence Viewer | |
CBH30625 | (Get FASTA) | NCBI Sequence Viewer | |
EAW69637 | (Get FASTA) | NCBI Sequence Viewer | |
Q6UE05 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_872310 ⟸ NM_182504 |
- UniProtKB: | Q6UE05 (UniProtKB/Swiss-Prot) |
- Sequence: |
MEALPPVRSSLLGILLQVTRLSVLLVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNWQAHLhide sequence |
RefSeq Acc Id: | XP_011514087 ⟸ XM_011515785 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6UE05 (UniProtKB/Swiss-Prot) |
- Sequence: |
MWAGMWGSTKGLGLALLSAWEQLGLSVAIWTDLFLSCLHGLMLVALLLVVVTWRVCQKSHCFRLhide sequence |
RefSeq Acc Id: | XP_016867230 ⟸ XM_017011741 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6UE05 (UniProtKB/Swiss-Prot) |
- Sequence: |
MWAGMWGSTKGLGLALLSAWEQLGLSVAIWTDLFLSCLHGLMLVALLLVVVTWRVCQKSHCFRLhide sequence |
RGD ID: | 7210785 | |||||||||
Promoter ID: | EPDNEW_H11137 | |||||||||
Type: | initiation region | |||||||||
Name: | WBSCR28_1 | |||||||||
Description: | Williams-Beuren syndrome chromosome region 28 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|See cases [RCV000050709] | Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 | copy number gain | Expressive language delay [RCV000050379]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|Global developmental delay [RCV000050381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|See cases [RCV000050379] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 | copy number loss | Global developmental delay [RCV000050382]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050383]|Cleft palate, isolated [RCV000050384]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050383]|See cases [RCV000050382] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 | copy number loss | Autism [RCV000051134]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051135]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051135]|See cases [RCV000051134] | Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050996]|See cases [RCV000050996] | Chr7:72930548..74869255 [GRCh38] Chr7:72401086..74285345 [GRCh37] Chr7:72039022..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 | copy number loss | Global developmental delay [RCV000050999]|See cases [RCV000050999] | Chr7:73352304..74869255 [GRCh38] Chr7:72766313..74285345 [GRCh37] Chr7:72404249..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] | Chr7:64560824..79186156 [GRCh38] Chr7:64021202..78815472 [GRCh37] Chr7:63658637..78653408 [NCBI36] Chr7:7q11.21-21.11 |
pathogenic |
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 | copy number gain | Macrocephaly [RCV000051965]|See cases [RCV000051965] | Chr7:72649515..75361855 [GRCh38] Chr7:72196405..74991125 [GRCh37] Chr7:71752436..74829061 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 | copy number gain | Renal adysplasia [RCV000051966]|See cases [RCV000051966] | Chr7:72768821..74869255 [GRCh38] Chr7:72233835..74285345 [GRCh37] Chr7:71871771..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 | copy number gain | Obesity [RCV000051967]|See cases [RCV000051967] | Chr7:73280574..74725240 [GRCh38] Chr7:72665462..74139573 [GRCh37] Chr7:72303398..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 | copy number gain | Corpus callosum agenesis [RCV000051986]|Chiari malformation type II [RCV000051987]|Global developmental delay [RCV000051988]|See cases [RCV000051986] | Chr7:73280574..74725240 [GRCh38] Chr7:72679397..74139573 [GRCh37] Chr7:72317333..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051989]|See cases [RCV000051989] | Chr7:73280574..74839100 [GRCh38] Chr7:72683244..74267189 [GRCh37] Chr7:72321180..73905125 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 | copy number gain | Global developmental delay [RCV000051990]|See cases [RCV000051990] | Chr7:73312575..74723034 [GRCh38] Chr7:72726571..74137354 [GRCh37] Chr7:72364507..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 | copy number gain | Global developmental delay [RCV000051991]|See cases [RCV000051991] | Chr7:73352104..74924178 [GRCh38] Chr7:72766113..74339185 [GRCh37] Chr7:72404049..73977121 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|See cases [RCV000053133] | Chr7:73096542..74727989 [GRCh38] Chr7:72507129..74142327 [GRCh37] Chr7:72145065..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 | copy number loss | Intellectual functioning disability [RCV000053143]|See cases [RCV000053143] | Chr7:73280574..74723034 [GRCh38] Chr7:72681397..74137354 [GRCh37] Chr7:72319333..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053144]|Global developmental delay [RCV000053145]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053144]|See cases [RCV000053144] | Chr7:73286412..74723034 [GRCh38] Chr7:72700414..74137354 [GRCh37] Chr7:72338350..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 | copy number gain | Hypertelorism [RCV000053146]|See cases [RCV000053146] | Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 | copy number loss | Primary familial hypertrophic cardiomyopathy [RCV000053147]|Absent speech [RCV000053148]|Autism [RCV000053149]|See cases [RCV000053147] | Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 | copy number loss | Global developmental delay [RCV000053150]|See cases [RCV000053150] | Chr7:73286412..74707848 [GRCh38] Chr7:72700414..74122179 [GRCh37] Chr7:72338350..73760115 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053151]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053151]|See cases [RCV000053151] | Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053152]|Failure to thrive [RCV000053153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053152]|See cases [RCV000053152] | Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|See cases [RCV000054111] | Chr7:69382353..77823832 [GRCh38] Chr7:68847339..77453149 [GRCh37] Chr7:68485275..77291085 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|See cases [RCV000054116] | Chr7:73352304..74133404 [GRCh38] Chr7:72404249..73185670 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054117]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054117]|See cases [RCV000054117] | Chr7:73614671..73942928 [GRCh38] Chr7:72666937..72995194 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 | copy number loss | See cases [RCV000133638] | Chr7:73352304..76722261 [GRCh38] Chr7:72766313..76351578 [GRCh37] Chr7:72404249..76189514 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 | copy number loss | See cases [RCV000134329] | Chr7:73304255..74718954 [GRCh38] Chr7:72718252..74133273 [GRCh37] Chr7:72356188..73771209 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000135712] | Chr7:73040501..75255046 [GRCh38] Chr7:74285295..76351578 [GRCh37] Chr7:73923231..76189514 [NCBI36] Chr7:7q11.23 |
uncertain significance |
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 | copy number gain | See cases [RCV000136287] | Chr7:72938064..74779028 [GRCh38] Chr7:72408602..74193374 [GRCh37] Chr7:72046538..73831310 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 | copy number loss | See cases [RCV000136391] | Chr7:73280574..74924007 [GRCh38] Chr7:72636006..74339014 [GRCh37] Chr7:72273942..73976950 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 | copy number gain | See cases [RCV000136042] | Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 | copy number loss | See cases [RCV000136046] | Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 | copy number loss | See cases [RCV000136076] | Chr7:73352303..74924023 [GRCh38] Chr7:72766312..74339030 [GRCh37] Chr7:72404248..73976966 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 | copy number loss | See cases [RCV000136014] | Chr7:73352303..74779051 [GRCh38] Chr7:72766312..74193397 [GRCh37] Chr7:72404248..73831333 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 | copy number loss | See cases [RCV000136793] | Chr7:73312582..74725057 [GRCh38] Chr7:72726578..74139390 [GRCh37] Chr7:72364514..73777326 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 | copy number gain | See cases [RCV000138102] | Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 | copy number loss | See cases [RCV000138103] | Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000137731] | Chr7:73040501..75255046 [GRCh38] Chr7:72635638..74904285 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73755813-74133404)x3 | copy number gain | See cases [RCV000138886] | Chr7:73755813..74133404 [GRCh38] Chr7:72808079..73185670 [NCBI36] Chr7:7q11.23 |
uncertain significance |
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 | copy number loss | See cases [RCV000138355] | Chr7:73286412..74727989 [GRCh38] Chr7:72700414..74142327 [GRCh37] Chr7:72338350..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 | copy number gain | See cases [RCV000138356] | Chr7:73280574..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 | copy number loss | See cases [RCV000138357] | Chr7:73271690..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 | copy number loss | See cases [RCV000139190] | Chr7:73192369..74869255 [GRCh38] Chr7:72606409..74285345 [GRCh37] Chr7:72244345..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 | copy number gain | See cases [RCV000139121] | Chr7:73280574..74779057 [GRCh38] Chr7:72663962..74193403 [GRCh37] Chr7:72301898..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 | copy number loss | See cases [RCV000139797] | Chr7:73286412..74869255 [GRCh38] Chr7:72700414..74285345 [GRCh37] Chr7:72338350..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 | copy number loss | See cases [RCV000140662] | Chr7:73286412..74779057 [GRCh38] Chr7:72700414..74193403 [GRCh37] Chr7:72338350..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 | copy number gain | See cases [RCV000140718] | Chr7:73192369..74883978 [GRCh38] Chr7:72606409..74300084 [GRCh37] Chr7:72244345..73938020 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 | copy number gain | See cases [RCV000141703] | Chr7:73175475..74740268 [GRCh38] Chr7:72589515..74154603 [GRCh37] Chr7:72227451..73792539 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 | copy number gain | See cases [RCV000142341] | Chr7:73286125..74732517 [GRCh38] Chr7:72700127..74146858 [GRCh37] Chr7:72338063..73784794 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 | copy number loss | See cases [RCV000142414] | Chr7:73280574..74789341 [GRCh38] Chr7:72637824..74203685 [GRCh37] Chr7:72275760..73841621 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73755831-74131326)x1 | copy number loss | See cases [RCV000142417] | Chr7:73755831..74131326 [GRCh38] Chr7:72808097..73183592 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 | copy number gain | See cases [RCV000142242] | Chr7:62977085..75415352 [GRCh38] Chr7:62437463..75044630 [GRCh37] Chr7:62074898..74882566 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 | copy number loss | See cases [RCV000142230] | Chr7:73286508..74727852 [GRCh38] Chr7:72700510..74142190 [GRCh37] Chr7:72338446..73780126 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 | copy number loss | See cases [RCV000142156] | Chr7:73280574..74727918 [GRCh38] Chr7:72650120..74142256 [GRCh37] Chr7:72288056..73780192 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 | copy number loss | See cases [RCV000142159] | Chr7:73286522..74727156 [GRCh38] Chr7:72700524..74141494 [GRCh37] Chr7:72338460..73779430 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 | copy number loss | See cases [RCV000142891] | Chr7:73286412..74758583 [GRCh38] Chr7:72700414..74172913 [GRCh37] Chr7:72338350..73810849 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 | copy number gain | See cases [RCV000142690] | Chr7:73352304..75065728 [GRCh38] Chr7:72766313..74481540 [GRCh37] Chr7:72404249..74119476 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 | copy number loss | See cases [RCV000142528] | Chr7:62736364..75432710 [GRCh38] Chr7:62196742..75061986 [GRCh37] Chr7:61834177..74899922 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 | copy number gain | See cases [RCV000143390] | Chr7:73280574..74728722 [GRCh38] Chr7:72677301..74143060 [GRCh37] Chr7:72315237..73780996 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 | copy number gain | See cases [RCV000148080] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 | copy number loss | See cases [RCV000148081] | Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 | copy number loss | See cases [RCV000143632] | Chr7:73304280..74727852 [GRCh38] Chr7:72718277..74142190 [GRCh37] Chr7:72356213..73780126 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) | copy number gain | See cases [RCV000143454] | Chr7:72179092..79164071 [GRCh38] Chr7:71644077..78793387 [GRCh37] Chr7:71282013..78631323 [NCBI36] Chr7:7q11.22-21.11 |
likely pathogenic |
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 | copy number loss | See cases [RCV000148142] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1 | copy number loss | See cases [RCV000239835] | Chr7:72718252..74133332 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 | copy number loss | See cases [RCV000239823] | Chr7:72708237..74339044 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 | copy number loss | See cases [RCV000258813] | Chr7:72722981..74217390 [GRCh37] Chr7:7q11.23 |
pathogenic|likely pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
Single allele | duplication | Intestinal malrotation [RCV000754986] | Chr7:72634873..74142327 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1 | copy number loss | See cases [RCV000207450] | Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23 |
pathogenic |
Single allele | deletion | not provided [RCV000768460] | Chr7:72682338..74141250 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
Single allele | duplication | Autism spectrum disorder [RCV000225382]|Autism spectrum disorders [RCV000225382] | Chr7:72718278..74140708 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3 | copy number gain | See cases [RCV000240527] | Chr7:71968212..74133332 [GRCh37] Chr7:7q11.22-11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1 | copy number loss | See cases [RCV000449356] | Chr7:72713253..74142256 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1 | copy number loss | See cases [RCV000449372] | Chr7:72718277..74141673 [GRCh37] Chr7:7q11.23 |
pathogenic |
TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3 | copy number gain | See cases [RCV000446793] | Chr7:72700127..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1 | copy number loss | See cases [RCV000447530] | Chr7:72713253..74143030 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 | copy number loss | See cases [RCV000447273] | Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1 | copy number loss | See cases [RCV000446832] | Chr7:72708237..74133273 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3 | copy number gain | See cases [RCV000446236] | Chr7:72686958..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 | copy number loss | See cases [RCV000447620] | Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1 | copy number loss | See cases [RCV000446172] | Chr7:72718277..74146948 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1 | copy number loss | See cases [RCV000447454] | Chr7:72718277..74142215 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3 | copy number gain | See cases [RCV000445755] | Chr7:72692112..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1 | copy number loss | See cases [RCV000447774] | Chr7:72700524..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1 | copy number loss | See cases [RCV000448046] | Chr7:72718277..74141784 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1 | copy number loss | See cases [RCV000448666] | Chr7:72718123..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 | copy number gain | See cases [RCV000448344] | Chr7:72472922..74259176 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3 | copy number gain | See cases [RCV000512048] | Chr7:72677301..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3 | copy number gain | See cases [RCV000512105] | Chr7:72700524..74142256 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1 | copy number loss | See cases [RCV000512130] | Chr7:72643631..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 | copy number loss | See cases [RCV000510243] | Chr7:72691242..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 | copy number loss | See cases [RCV000510195] | Chr7:72718277..74287433 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 | copy number loss | See cases [RCV000510198] | Chr7:72718277..74259899 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1 | copy number loss | See cases [RCV000510144] | Chr7:72701018..74141493 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1 | copy number loss | See cases [RCV000511510] | Chr7:72718277..73898515 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1 | copy number loss | See cases [RCV000511528] | Chr7:72718277..74146858 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3 | copy number gain | See cases [RCV000511487] | Chr7:72692112..74154497 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1 | copy number loss | See cases [RCV000511955] | Chr7:72718277..74141494 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3 | copy number gain | See cases [RCV000510884] | Chr7:72677173..74143140 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 | copy number loss | See cases [RCV000511254] | Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3 | copy number gain | See cases [RCV000510938] | Chr7:72589515..74165401 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 | copy number loss | See cases [RCV000510782] | Chr7:72456604..76007380 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72766313-74133332) | copy number loss | Abnormal facial shape [RCV000626537]|Global developmental delay [RCV000626537] | Chr7:72766313..74133332 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72772522-74133319) | copy number loss | Short stature [RCV000626538] | Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1 | copy number loss | See cases [RCV000512220] | Chr7:72718277..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 | copy number loss | See cases [RCV000512310] | Chr7:72536980..74629034 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 | copy number gain | See cases [RCV000512328] | Chr7:72577021..74197846 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3 | copy number gain | See cases [RCV000512332] | Chr7:72659674..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 | copy number gain | not provided [RCV000682898] | Chr7:72577021..74859638 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 | copy number loss | not provided [RCV000682894] | Chr7:72589515..74386749 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3 | copy number gain | not provided [RCV000682887] | Chr7:72577021..74147166 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3 | copy number gain | not provided [RCV000682888] | Chr7:72576872..74175429 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3 | copy number gain | not provided [RCV000682883] | Chr7:72700524..74069858 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 | copy number loss | not provided [RCV000682892] | Chr7:72608514..74386749 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 | copy number loss | not provided [RCV000682895] | Chr7:72612042..74574641 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3 | copy number gain | not provided [RCV000682886] | Chr7:72701018..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1 | copy number loss | not provided [RCV000682885] | Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23 |
pathogenic |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Speech-language disorder 1 [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 | copy number loss | not provided [RCV000746789] | Chr7:72305671..74196360 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 | copy number loss | not provided [RCV000746793] | Chr7:72719386..74218536 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3 | copy number gain | not provided [RCV000746795] | Chr7:72743983..74145064 [GRCh37] Chr7:7q11.23 |
pathogenic |
Single allele | duplication | Schizophrenia [RCV000754333] | Chr7:73312644..74726596 [GRCh38] Chr7:7q11.23 |
pathogenic |
Single allele | duplication | Autistic disorder of childhood onset [RCV000754334] | Chr7:73323103..74726596 [GRCh38] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1 | copy number loss | not provided [RCV000746791] | Chr7:72650265..74138603 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 | copy number loss | not provided [RCV000746794] | Chr7:72722981..74200092 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1 | copy number loss | not provided [RCV000746792] | Chr7:72653306..74134911 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:73023062-73524207)x1 | copy number loss | not provided [RCV000746796] | Chr7:73023062..73524207 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 | copy number loss | not provided [RCV000746790] | Chr7:72650106..74138603 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72744494-74339044) | copy number loss | Williams syndrome [RCV000767637] | Chr7:72744494..74339044 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72744494-76038818) | copy number loss | Williams syndrome [RCV000767638] | Chr7:72744494..76038818 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72721449-73959106) | copy number loss | Williams syndrome [RCV000767559] | Chr7:72721449..73959106 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72700996-74142190) | copy number loss | Williams syndrome [RCV000767639] | Chr7:72700996..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
GRCh37/hg19 7q11.23(chr7:72772522-74133319) | copy number loss | Williams syndrome [RCV000767640] | Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23 |
pathogenic |
Single allele | duplication | Neurodevelopmental disorder [RCV000787457] | Chr7:72364526..73780265 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787466] | Chr7:72726590..74142329 [GRCh37] Chr7:7q11.23 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787465] | Chr7:72699382..74142329 [GRCh37] Chr7:7q11.23 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:23018 | AgrOrtholog |
COSMIC | TMEM270 | COSMIC |
Ensembl Genes | ENSG00000175877 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000316775 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000403621 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000320531 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000426490 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000175877 | GTEx |
HGNC ID | HGNC:23018 | ENTREZGENE |
Human Proteome Map | TMEM270 | Human Proteome Map |
InterPro | WBS28 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:135886 | UniProtKB/Swiss-Prot |
NCBI Gene | 135886 | ENTREZGENE |
OMIM | 612547 | OMIM |
PANTHER | PTHR37369 | UniProtKB/Swiss-Prot |
Pfam | WBS28 | UniProtKB/Swiss-Prot |
PharmGKB | PA145147726 | PharmGKB |
UniGene | Hs.647026 | ENTREZGENE |
UniProt | Q6UE05 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | Q6UE04 | UniProtKB/Swiss-Prot |
Q8NHP4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-05-16 | TMEM270 | transmembrane protein 270 | WBSCR28 | Williams-Beuren syndrome chromosome region 28 | Symbol and/or name change | 5135510 | APPROVED |
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More on TMEM270 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1602434 |
Created: | 2007-04-27 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.