RGD:12841980 Rat Genome Database

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Variant: RGD:12841980 -  Homo sapiens

RGD ID: 12841980
RS ID: rs1057522015
ClinVar ID: CV377518
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,617,049
GRCh38 19 13,506,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127221.2:c.-11C>T
LRG_7t1:c.-11C>T
LRG_7:g.5226C>T
NG_011569.1:g.5226C>T
More... 		03/22/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_023035
Location:5UTRS;EXON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:5UTRS;EXON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:5UTRS;EXON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:5UTRS;EXON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000433561 CLINVAR
dbSNP (RS) rs1057522015 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR