Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV195683 (NM_004727.2(SLC24A1):c.2577C>T (p.Ser859=)) Homo sapiens

Symbol: CV195683
Name: NM_004727.2(SLC24A1):c.2577C>T (p.Ser859=)
Condition: Congenital Stationary Night Blindness, Recessive [RCV000360829]|not specified [RCV000179896]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC24A1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_004727.2:c.2577C>T
NC_000015.10:g.65650726C>T
NC_000015.9:g.65943064C>T
NP_004718.1:p.Ser859=
NG_031968.2:g.44322C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,650,726 - 65,650,726CLINVAR
GRCh371565,943,064 - 65,943,064CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10053027
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.