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Variant : CV623880 (NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)) Homo sapiens

Symbol: CV623880
Name: NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)
Condition: Congenital stationary night blindness [RCV000787607]
Clinical Significance: likely pathogenic
Last Evaluated: 04/01/2018
Review Status: no assertion criteria provided
Related Genes: GRK1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NM_002929.3:c.1384C>T
NC_000013.11:g.113733073C>T
NC_000013.10:g.114436046C>T
NM_002929.2:c.1384C>T
NP_002920.1:p.Gln462Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3813113,733,073 - 113,733,073CLINVAR
GRCh3713114,436,046 - 114,436,046CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: Congenital night blindness; Night blindness since birth; Night blindness, congenital stationary, complete; Night blindness, stationary; Static congenital hemeralopia



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698466
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-01-14
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.