RGD:11650670 Rat Genome Database

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Variant: RGD:11650670 -  Homo sapiens

RGD ID: 11650670
RS ID: rs886053710
ClinVar ID: CV331159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSG2  LOC130062340  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 29,078,171
GRCh38 18 31,498,208
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_397:g.4967C>A
NG_007072.3:g.4967C>A
NC_000018.10:g.31498208C>A
NC_000018.9:g.29078171C>A
More... 		06/14/2016 5 prime utr variant uncertain significance Arrhythmogenic right ventricular dysplasia; Cardiomyopathy, ARVC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DSG2
Accession:XM_047437315
Location:5UTRS;EXON

Gene Symbol:DSG2
Accession:NM_001943
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000294099 CLINVAR
  RCV000386039 CLINVAR
dbSNP (RS) rs886053710 CLINVAR
MedGen C0349788 CLINVAR
  CN239310 CLINVAR
NCBI Gene DSG2 CLINVAR
  LOC130062340 CLINVAR
OMIM 125671 CLINVAR
SNOMED CT 281170005 CLINVAR