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Variant : CV341072 (NM_004727.2(SLC24A1):c.134G>A (p.Arg45Gln)) Homo sapiens

Symbol: CV341072
Name: NM_004727.2(SLC24A1):c.134G>A (p.Arg45Gln)
Condition: Congenital Stationary Night Blindness, Recessive [RCV000312575]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC24A1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_004727.2:c.134G>A
NG_031968.2:g.17810G>A
NC_000015.10:g.65624214G>A
NC_000015.9:g.65916552G>A
NP_004718.1:p.Arg45Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,624,214 - 65,624,214CLINVAR
GRCh371565,916,552 - 65,916,552CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11653718
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
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.