RGD:14733383 Rat Genome Database

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Variant: RGD:14733383 -  Homo sapiens

RGD ID: 14733383
RS ID: rs58124792
ClinVar ID: CV657259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,027,851
GRCh38 1 201,058,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000069.3:c.3526-232C>T
NG_009816.2:g.58844C>T
NC_000001.11:g.201058723G>A
NC_000001.10:g.201027851G>A
More...
06/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1S
Accession:XM_005245478
Location:INTRON

Gene Symbol:CACNA1S
Accession:NM_000069
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000837071 CLINVAR
dbSNP (RS) rs58124792 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR