rs147109895
This variant is located in the DSC2 gene.
▶ClinVar annotation
not specified; Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype; not provided; Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia
View on ClinVar →About DSC2
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]
View all DSC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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