rs36087964

This variant is located in the DSP gene.

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ClinVar annotation

Benign★★★☆
16 submitters3 publications

not specified; Lethal acantholytic epidermolysis bullosa; Arrhythmogenic right ventricular dysplasia 8; Woolly hair-skin fragility syndrome; Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8; not provided; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

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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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