RGD:405129922 Rat Genome Database

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Variant: RGD:405129922 -  Homo sapiens

RGD ID: 405129922
ClinVar ID: CV2895037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,904,053
GRCh38 16 56,870,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001126107.2:c.644G>A
NM_001410896.1:c.644G>A
NM_000339.3:c.647G>A
NM_001126108.2:c.647G>A
More... 		04/15/2023 missense variant likely pathogenic none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:21415153   PMID:28492532   PMID:31672324  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003559911 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 600968 CLINVAR