RGD:13540434 Rat Genome Database

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Variant: RGD:13540434 -  Homo sapiens

RGD ID: 13540434
RS ID: rs1410751702
ClinVar ID: CV501831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D1  CACNA2D1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 81,641,570
GRCh38 7 82,012,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_437:g.436462C>T
NG_009358.2:g.436462C>T
NC_000007.14:g.82012254G>A
NC_000007.13:g.81641570G>A
More... 		11/07/2017 intron variant likely benign none provided; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA2D1
Accession:XM_005250572
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716121
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716118
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_000722
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516570
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420820
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_005250573
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516571
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516572
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420822
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_001302890
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420819
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_005250574
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_001366867
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716120
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420821
Location:INTRON

Gene Symbol:CACNA2D1-AS1
Accession:NR_110077
Location:INTRON;NON-CODING

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

Gene Symbol:CACNA2D1-AS1
Accession:NR_110076
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001697397 CLINVAR
  RCV002062153 CLINVAR
dbSNP (RS) rs1410751702 CLINVAR
MedGen C1142166 CLINVAR
  C3661900 CLINVAR
NCBI Gene 101927356 CLINVAR
  CACNA2D1 CLINVAR
OMIM 114204 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR