RGD:405248849 Rat Genome Database

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Variant: RGD:405248849 -  Homo sapiens

RGD ID: 405248849
ClinVar ID: CV2987217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 56,916,302
GRCh38 16 56,882,390
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.1565-6C>T
NM_001410896.1:c.1565-6C>T
NM_000339.3:c.1568-6C>T
NM_001126108.2:c.1568-6C>T
More... 		01/15/2023 intron variant likely benign 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_001410896
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126107
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003686059 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 600968 CLINVAR