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Variant : CV214007 (NM_198270.4(NHS):c.2707del (p.Glu903fs)) Homo sapiens

Symbol: CV214007
Name: NM_198270.4(NHS):c.2707del (p.Glu903fs)
Condition: Congenital cataract [RCV000203327]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2015
Review Status: no assertion criteria provided
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_001291868.2:c.2176del
NM_001136024.4:c.2239del
NM_198270.4:c.2707del
NM_001291867.2:c.2770del
NG_011553.2:g.356457del
NC_000023.11:g.17726876del
NC_000023.10:g.17744996del
NM_198270.3:c.2707delG
NP_001278796.1:p.Glu924fs
NP_001278797.1:p.Glu726fs
NP_001129496.1:p.Glu747fs
NP_938011.1:p.Glu903fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,876 - 17,726,876CLINVAR
GRCh37X17,744,996 - 17,744,996CLINVAR
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: 10766553
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.