rs886061739

This variant is located in the DSP gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Epidermolysis bullosa simplex due to plakophilin deficiency; Arrhythmogenic right ventricular cardiomyopathy; Woolly hair-skin fragility syndrome; Lethal acantholytic epidermolysis bullosa

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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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