rs121912998

This is a protein-altering variant in the DSP gene.

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ClinVar annotation

Pathogenic★★★☆
28 submitters20 publications

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy (ARVD); Arrhythmogenic right ventricular dysplasia 8 (ARVD8); Cardiomyopathy (CMYO); Cardiovascular phenotype; DSP-related disorder; Keratosis palmoplantaris striata 2; Lethal acantholytic epidermolysis bullosa (EBLA); Right ventricular cardiomyopathy; Woolly hair-skin fragility syndrome (WHSF); not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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