RGD:12841501 Rat Genome Database

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Variant: RGD:12841501 -  Homo sapiens

RGD ID: 12841501
RS ID: rs200428602
ClinVar ID: CV369617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 82,072,815
GRCh38 7 82,443,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_437:g.5217C>T
NG_009358.2:g.5217C>T
NC_000007.14:g.82443499G>A
NC_000007.13:g.82072815G>A
More...
12/12/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CACNA2D1
Accession:NM_000722
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_005250574
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_005250572
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_005250573
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_006716118
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:NM_001302890
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_011516572
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_011516571
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_011516570
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:NM_001366867
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_047420822
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_047420820
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_047420821
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XM_047420819
Location:5UTRS;EXON

Gene Symbol:CACNA2D1
Accession:XR_001744873
Location:EXON;NON-CODING

Gene Symbol:CACNA2D1
Accession:XM_006716120
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716121
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000432694 CLINVAR
dbSNP (RS) rs200428602 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CACNA2D1 CLINVAR
OMIM 114204 CLINVAR