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Variant : CV255331 (NM_004727.2(SLC24A1):c.109A>T (p.Thr37Ser)) Homo sapiens

Symbol: CV255331
Name: NM_004727.2(SLC24A1):c.109A>T (p.Thr37Ser)
Condition: Congenital Stationary Night Blindness, Recessive [RCV000397613]|not specified [RCV000243514]
Clinical Significance: benign
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.109A>T
NG_031968.2:g.17785A>T
NC_000015.10:g.65624189A>T
NC_000015.9:g.65916527A>T
NP_004718.1:p.Thr37Ser
O60721:p.Thr37Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,624,189 - 65,624,189CLINVAR
GRCh371565,916,527 - 65,916,527CLINVAR
Cytogenetic Map1515q22.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11544234
Created: 2016-10-11
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.