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Variant : CV18333 (NM_000268.3(NF2):c.1387G>T (p.Glu463Ter)) Homo sapiens

Symbol: CV18333
Name: NM_000268.3(NF2):c.1387G>T (p.Glu463Ter)
Condition: Neurofibromatosis, type 2 [RCV000003455]
Clinical Significance: pathogenic
Last Evaluated: 03/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense|intron variant
Evidence: literature only
HGVS Name(s): LRG_511t1:c.1387G>T
LRG_511t2:c.1387G>T
NM_000268.3:c.1387G>T
NM_016418.5:c.1387G>T
NM_181833.2:c.448-19870G>T
LRG_511:g.76327G>T
NG_009057.1:g.76327G>T
NC_000022.11:g.29674882G>T
NC_000022.10:g.30070871G>T
LRG_511p2:p.Glu463Ter
LRG_511p1:p.Glu463Ter
NP_057502.2:p.Glu463Ter
NP_000259.1:p.Glu463Ter
NM_181830.3:c.1138G>T
NM_181831.3:c.1138G>T
NM_181828.3:c.1261G>T
NM_181829.3:c.1264G>T
NM_181825.3:c.1387G>T
NP_861969.1:p.Glu380Ter
NP_861966.1:p.Glu421Ter
NP_861967.1:p.Glu422Ter
NP_861546.1:p.Glu463Ter
NP_861970.1:p.Glu463Ter
NM_181832.3:c.1387G>T
NR_156186.1:n.1946G>T
NP_861968.1:p.Glu380Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,882 - 29,674,882CLINVAR
GRCh372230,070,871 - 30,070,871CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages|variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8557330
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.