RGD:151716776 Rat Genome Database

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Variant: RGD:151716776 -  Homo sapiens

RGD ID: 151716776
RS ID: rs2144772233
ClinVar ID: CV1472865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127884069  SLC12A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,938,306
GRCh38 16 56,904,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009386.2:g.44188G>A
NC_000016.10:g.56904394G>A
NC_000016.9:g.56938306G>A
NM_001126108.2:c.2857-1G>A
More... 		07/13/2021 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC12A3
Accession:NM_000339
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126108
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126107
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001410896
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20848653   PMID:22009145   PMID:25841442   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002039458 CLINVAR
dbSNP (RS) rs2144772233 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 600968 CLINVAR