RGD:9689805 Rat Genome Database

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Variant: RGD:9689805 -  Homo sapiens

RGD ID: 9689805
RS ID: rs727504450
ClinVar ID: CV176662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSG2  LOC130062340  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 29,078,204
GRCh38 18 31,498,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007072.3:g.5000G>A
NC_000018.10:g.31498241G>A
NC_000018.9:g.29078204G>A
LRG_397t1:c.-11G>A
More... 		10/29/2019 5 prime utr variant uncertain significance|not provided AllHighlyPenetrant; Cardiomyopathies; none provided
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DSG2
Accession:NM_001943
Location:5UTRS;EXON

Gene Symbol:DSG2
Accession:XM_047437315
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155421 CLINVAR
  RCV000586426 CLINVAR
  RCV001188623 CLINVAR
dbSNP (RS) rs727504450 CLINVAR
MedGen C0878544 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DSG2 CLINVAR
  LOC130062340 CLINVAR
OMIM 125671 CLINVAR
SNOMED CT 85898001 CLINVAR