DSC2 Chromosome 18

Desmocollin 2
270 variants 270 Health Risk

Upload your DNA to see your personal genotypes for variants in DSC2.

What This Gene Does
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
Desmosomal cadherins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000134755
Associated Conditions (24)
Arrhythmogenic right ventricular dysplasia 11
Cardiovascular phenotype
Familial isolated arrhythmogenic right ventricular dysplasia
Cardiomyopathy
DSC2-related disorder
Primary familial dilated cardiomyopathy
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 1
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
Cardiac arrhythmia
Primary dilated cardiomyopathy
Gastric cancer
Malignant tumor of esophagus
See cases
Dilated cardiomyopathy 1A
Arrhythmogenic right ventricular dysplasia
familial
11
+4 more conditions
Key Variants
RS1022023137
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1023394201
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1060502992
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiovascular phenotype
Health Risk
RS1064793731
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy
Health Risk
RS112532429
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1157312147
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
Health Risk
RS1163344946
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy
Health Risk
RS1170934513
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1191093439
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
Health Risk
RS1206662571
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
Health Risk
RS1227564823
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1245669690
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (270)
RSID Category Clinical Significance Conditions
RS936641955 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy
RS977269905 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Cardiomyopathy
RS977709312 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS977781359 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS1430478589 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555638622 Health Risk Likely pathogenic —
RS1555638995 Health Risk Likely pathogenic —
RS1555640396 Health Risk Likely pathogenic —
RS1986794200 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1987974114 Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144788151 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS2144791672 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144814453 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144842978 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144843645 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510938201 Health Risk Likely pathogenic —
RS2510942619 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510946837 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510951321 Health Risk Likely pathogenic —
RS2510955933 Health Risk Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS397517393 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS746173561 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS747424133 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy, Cardiomyopathy
RS764016208 Health Risk Likely pathogenic —
RS886039128 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1060502989 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1209546374 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1318223723 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1373100329 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1460932284 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555639134 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1598572298 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1986951516 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1986957498 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1987161799 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1987170019 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144788632 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144799555 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144800227 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144812824 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144818920 Health Risk Pathogenic —
RS2144833653 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144839173 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2144850365 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510938096 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510939437 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948219 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948314 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948963 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510951125 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
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