RGD:150509729 Rat Genome Database

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Variant: RGD:150509729 -  Homo sapiens

RGD ID: 150509729
RS ID: rs185690935
ClinVar ID: CV1229976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,409,324
GRCh38 19 13,298,510
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.3089+34C>T
NM_001127221.2:c.3092+34C>T
NM_001174080.2:c.3092+34C>T
NM_000068.4:c.3101+34C>T
More... 		06/25/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001636556 CLINVAR
dbSNP (RS) rs185690935 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR