rs547069600

This variant is located in the DSP gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter

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

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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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