RGD:150428582 Rat Genome Database

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Variant: RGD:150428582 -  Homo sapiens

RGD ID: 150428582
RS ID: rs368199574
ClinVar ID: CV1188711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 13,368,131
GRCh38 19 13,257,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127222.2:c.4590+33A>G
NM_001127221.2:c.4593+33A>G
NM_001174080.2:c.4593+33A>G
NM_000068.4:c.4602+33A>G
More... 		07/15/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001562447 CLINVAR
dbSNP (RS) rs368199574 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR