RGD:8566327 Rat Genome Database

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Variant: RGD:8566327 -  Homo sapiens

RGD ID: 8566327
RS ID: rs28986463
ClinVar ID: CV32668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 201,029,719
GRCh38 1 201,060,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.201060591T>C
NC_000001.10:g.201029719T>C
NM_000069.3:c.3414+67A>G
NG_009816.2:g.56976A>G
More... 		06/11/2010 intron variant risk factor adulthood <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CACNA1S
Accession:NM_000069
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15001631  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019196 CLINVAR
dbSNP (RS) rs28986463 CLINVAR
MedGen C2749982 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  188580 CLINVAR
OMIM Allele 114208.0007 CLINVAR