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Variant : CV214008 (NM_198270.4(NHS):c.3624C>A (p.Cys1208Ter)) Homo sapiens

Symbol: CV214008
Name: NM_198270.4(NHS):c.3624C>A (p.Cys1208Ter)
Condition: Congenital cataract [RCV000203345]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2015
Review Status: no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NP_001278797.1:p.Cys1031Ter
NP_001129496.1:p.Cys1052Ter
NP_001278796.1:p.Cys1229Ter
NM_001291868.2:c.3093C>A
NM_001136024.4:c.3156C>A
NM_198270.4:c.3624C>A
NM_001291867.2:c.3687C>A
NM_198270.3:c.3624C>A
NG_011553.2:g.357374C>A
NC_000023.11:g.17727793C>A
NC_000023.10:g.17745913C>A
NP_938011.1:p.Cys1208Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,793 - 17,727,793CLINVAR
GRCh37X17,745,913 - 17,745,913CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: Bilateral cataracts; Bilateral congenital cataracts; Cataracts, lenticular, bilateral; Congenital cataracts



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10766486
Created: 2016-02-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.