RGD:14733347 Rat Genome Database

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Variant: RGD:14733347 -  Homo sapiens

RGD ID: 14733347
RS ID: rs138057423
ClinVar ID: CV670071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,325,619
GRCh38 19 13,214,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127221.1:c.5735-197G>A
NM_001127222.2:c.5732-197G>A
NG_011569.1:g.296656G>A
NM_001174080.2:c.5741-197G>A
More... 		06/14/2018 intron variant likely benign none provided

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

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000837057 CLINVAR
dbSNP (RS) rs138057423 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR