rs199555021

This variant is located in the SERPINB7 gene.

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ClinVar annotation

Pathogenic★★★☆
2 submitters5 publications

Palmoplantar keratoderma, Nagashima type; not provided

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About SERPINB7

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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