DSP Chromosome 6

Desmoplakin
1313 variants 1313 Health Risk

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What This Gene Does
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000096696
Associated Conditions (65)
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Cardiomyopathy
dilated
with wooly hair
keratoderma
and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata 2
Primary familial hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Long QT syndrome
DSP-related disorder
Right ventricular cardiomyopathy
Wolff-Parkinson-White pattern
Familial restrictive cardiomyopathy
Primary dilated cardiomyopathy
+45 more conditions
Key Variants
RS1008407158
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1019692996
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1028793473
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1033990351
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1037212969
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1040120840
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1040353645
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1041054817
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1043978096
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044309736
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044634464
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1050258732
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Health Risk
All Variants (1313)
RSID Category Clinical Significance Conditions
RS1759156637 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS1759209975 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759419529 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759594471 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS1759621325 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated, with wooly hair
RS181608152 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS185367490 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS185846631 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS186842903 Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS188516326 Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS190421916 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS191778417 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS193922671 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS199509943 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS199597935 Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome, Cardiomyopathy
RS199795359 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200243976 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS200250096 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS200336897 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS200421954 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS200443042 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS200473206 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Long QT syndrome, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200476515 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Lethal acantholytic epidermolysis bullosa
RS200745877 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS200806163 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201133637 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS201397978 Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS201672777 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS201736018 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS201785897 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS201826850 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201930322 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS201960323 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201964660 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS202025438 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS202049575 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS202084959 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS202194206 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS202232360 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113705206 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2491079 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS2491080 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533800992 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533862916 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533923939 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Cardiovascular phenotype
RS2533928815 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS2533942196 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2744380 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS28763958 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS28763963 Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
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