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Variant : CV28051 (NM_002929.3(GRK1):c.1172C>A (p.Pro391His)) Homo sapiens

Symbol: CV28051
Name: NM_002929.3(GRK1):c.1172C>A (p.Pro391His)
Condition: Oguchi disease 2 [RCV000013886]
Clinical Significance: pathogenic
Last Evaluated: 05/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GRK1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NP_002920.1:p.PRO391HIS
NC_000013.11:g.113731321C>A
Q15835:p.Pro391His
NM_002929.3:c.1172C>A
NC_000013.10:g.114434294C>A
NM_002929.2:c.1172C>A
NP_002920.1:p.Pro391His
NP_002920.1:p.Pro391His
Position
Human AssemblyChrPosition (strand)Source
GRCh3813113,731,321 - 113,731,321CLINVAR
GRCh3713114,434,294 - 114,434,294CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8563446
Created: 2014-05-13
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.