RGD:15161236 Rat Genome Database

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Variant: RGD:15161236 -  Homo sapiens

RGD ID: 15161236
RS ID: rs368391882
ClinVar ID: CV689839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 7,566,605
GRCh38 6 7,566,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001008844.3:c.940-5C>T
NM_001319034.2:c.940-5C>T
NM_004415.4:c.940-5C>T
NG_008803.1:g.29736C>T
More... 		01/10/2020 intron variant likely benign 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; Cardiomyopathies; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DSP
Accession:NM_001008844
Location:INTRON

Gene Symbol:DSP
Accession:NM_001406591
Location:INTRON

Gene Symbol:DSP
Accession:NM_004415
Location:INTRON

Gene Symbol:DSP
Accession:NM_001319034
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000869177 CLINVAR
  RCV001179736 CLINVAR
dbSNP (RS) rs368391882 CLINVAR
MedGen C0878544 CLINVAR
  C1854063 CLINVAR
NCBI Gene DSP CLINVAR
OMIM 125647 CLINVAR
  605676 CLINVAR
  607450 CLINVAR
SNOMED CT 85898001 CLINVAR