RGD:13538354 Rat Genome Database

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Variant: RGD:13538354 -  Homo sapiens

RGD ID: 13538354
RS ID: rs111772206
ClinVar ID: CV502193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 81,620,568
GRCh38 7 81,991,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000722.4:c.1735-6T>C
NM_001366867.1:c.1792-6T>C
NC_000007.13:g.81620568A>G
LRG_437:g.457464T>C
More... 		03/23/2018 intron variant benign|likely benign AllHighlyPenetrant; 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_005250573
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716118
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420820
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516571
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_001302890
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_001366867
Location:INTRON

Gene Symbol:CACNA2D1
Accession:NM_000722
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716120
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_005250572
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420821
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516572
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420822
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_047420819
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_006716121
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_005250574
Location:INTRON

Gene Symbol:CACNA2D1
Accession:XM_011516570
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611709 CLINVAR
  RCV001522606 CLINVAR
  RCV003935677 CLINVAR
dbSNP (RS) rs111772206 CLINVAR
MedGen C1142166 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA2D1 CLINVAR
OMIM 114204 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR