rs202194206
This variant is located in the DSP gene.
▶ClinVar annotation
Cardiomyopathy; 6 conditions; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; not specified; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2
View on ClinVar →About DSP
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]
View all DSP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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