RGD:155801800 Rat Genome Database

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Variant: RGD:155801800 -  Homo sapiens

RGD ID: 155801800
ClinVar ID: CV1864111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,352,328
GRCh38 19 13,241,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_023035.3:c.4968+7C>T
LRG_7:g.269947C>T
NG_011569.1:g.269947C>T
NC_000019.10:g.13241514G>A
More... 		04/13/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
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

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002475063 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR