RGD:150531535 Rat Genome Database

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Variant: RGD:150531535 -  Homo sapiens

RGD ID: 150531535
RS ID: rs200200460
ClinVar ID: CV1291263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  LOC127890578  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,342,701
GRCh38 19 13,231,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001174080.2:c.5259-27G>A
NG_011569.1:g.279574G>A
NC_000019.10:g.13231887C>T
NC_000019.9:g.13342701C>T
More... 		10/08/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001733116 CLINVAR
dbSNP (RS) rs200200460 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR