rs748738880
This is a variant in the DSP gene that changes a methionine to an arginine.
▶ClinVar annotation
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 (ARVD8); Cardiomyopathy (CMYO); not specified
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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