RGD:155268083 Rat Genome Database

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Variant: RGD:155268083 -  Homo sapiens

RGD ID: 155268083
ClinVar ID: CV1705256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,922,150
GRCh38 16 56,888,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001126108.2:c.2285+207T>C
NG_009386.2:g.28032T>C
NC_000016.10:g.56888238T>C
NC_000016.9:g.56922150T>C
More...
12/03/2020 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_001126107
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001410896
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002285861 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 600968 CLINVAR