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Variant : CV271809 (NM_004727.2(SLC24A1):c.1859C>T (p.Ala620Val)) Homo sapiens

Symbol: CV271809
Name: NM_004727.2(SLC24A1):c.1859C>T (p.Ala620Val)
Condition: Congenital Stationary Night Blindness, Recessive [RCV000381983]|not specified [RCV000265032]
Clinical Significance: benign|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.1859C>T
NG_031968.2:g.19535C>T
NC_000015.10:g.65625939C>T
NC_000015.9:g.65918277C>T
NP_004718.1:p.Ala620Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,625,939 - 65,625,939CLINVAR
GRCh371565,918,277 - 65,918,277CLINVAR
Cytogenetic Map1515q22.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11581730
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.