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Variant : CV626221 (NM_002929.3(GRK1):c.92G>A (p.Arg31Gln)) Homo sapiens

Symbol: CV626221
Name: NM_002929.3(GRK1):c.92G>A (p.Arg31Gln)
Condition: Oguchi's disease [RCV000790922]
Clinical Significance: uncertain significance
Last Evaluated: 04/27/2019
Review Status: criteria provided, single submitter
Related Genes: GRK1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_002920.1:p.Arg31Gln
NC_000013.11:g.113667478G>A
NC_000013.10:g.114321793G>A
NM_002929.2:c.92G>A
NM_002929.3:c.92G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3813113,667,478 - 113,667,478CLINVAR
GRCh3713114,321,793 - 114,321,793CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14702439
Created: 2019-09-06
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.