RGD:11040098 Rat Genome Database

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Variant: RGD:11040098 -  Homo sapiens

RGD ID: 11040098
RS ID: rs771984464
ClinVar ID: CV224329
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 7,581,810
GRCh38 6 7,581,577
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_423:g.44941C>G
NG_008803.1:g.44941C>G
NC_000006.12:g.7581577C>G
NC_000006.11:g.7581810C>G
More... 		01/22/2019 intron variant likely benign|uncertain significance Arrhythmogenic cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic right ventricular dysplasia 8; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DSP
Accession:NM_001406591
Location:INTRON

Gene Symbol:DSP
Accession:NM_001008844
Location:INTRON

Gene Symbol:DSP
Accession:NM_001319034
Location:INTRON

Gene Symbol:DSP
Accession:NM_004415
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208350 CLINVAR
  RCV000983770 CLINVAR
dbSNP (RS) rs771984464 CLINVAR
MedGen C0949658 CLINVAR
  C1854063 CLINVAR
NCBI Gene DSP CLINVAR
OMIM 125647 CLINVAR
  192600 CLINVAR
  605676 CLINVAR
  607450 CLINVAR
SNOMED CT 83978005 CLINVAR