RGD:12847564 Rat Genome Database

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Variant: RGD:12847564 -  Homo sapiens

RGD ID: 12847564
RS ID: rs771333825
ClinVar ID: CV376212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,325,163
GRCh38 19 13,214,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_7t1:c.5843-16G>A
LRG_7:g.297112G>A
NG_011569.1:g.297112G>A
NC_000019.10:g.13214349C>T
More... 		08/04/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000443709 CLINVAR
dbSNP (RS) rs771333825 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR