Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV177308 (NM_198270.4(NHS):c.152C>T (p.Ala51Val)) Homo sapiens

Symbol: CV177308
Name: NM_198270.4(NHS):c.152C>T (p.Ala51Val)
Condition: History of neurodevelopmental disorder [RCV000719244]|Nance-Horan syndrome [RCV000764867]|Neurodevelopmental [RCV000719244]|not specified [RCV000153563]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_198270.2:c.152C>T
NP_938011.1:p.Ala51Val
NM_001291867.2:c.152C>T
NM_198270.4:c.152C>T
NP_001278796.1:p.Ala51Val
NG_011553.2:g.5490C>T
NC_000023.11:g.17375909C>T
NC_000023.10:g.17394032C>T
NP_938011.1:p.Ala51Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,909 - 17,375,909CLINVAR
GRCh37X17,394,032 - 17,394,032CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: Cataract 40; CATARACT 40 WITH OR WITHOUT MICROCORNEA; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CATARACT, CONGENITAL, WITH MICROCORNEA AND MICROPHTHALMIA; Cataract, congenital, X-linked; MICROPHTHALMIA AND CATARACT 3; Microphthalmia, isolated, with cataract 3; Zonular cataract and nystagmus



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693114
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.