RGD:405115132 Rat Genome Database

Send us a Message



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

Variant: RGD:405115132 -  Homo sapiens

RGD ID: 405115132
ClinVar ID: CV3019245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 56,920,969
GRCh38 16 56,887,057
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.56887057C>G
NC_000016.9:g.56920969C>G
NP_001119579.2:p.Ala713=
NP_001397825.1:p.Ala713=
More...
10/23/2023 synonymous variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003700118 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 600968 CLINVAR