RGD:126733842 Rat Genome Database

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Variant: RGD:126733842 -  Homo sapiens

RGD ID: 126733842
RS ID: rs2056733058
ClinVar ID: CV1001081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  LOC126862864  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,372,263
GRCh38 19 13,261,449
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_7:g.250012G>C
NG_011569.1:g.250012G>C
NC_000019.10:g.13261449C>G
NM_001127222.2:c.4250+1G>C
More... 		01/01/2021 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001127221
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

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001311179 CLINVAR
dbSNP (RS) rs2056733058 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
  LOC126862864 CLINVAR
OMIM 601011 CLINVAR