rs746488412

This is a stop gained variant in the AAGAB gene.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters7 publications

Palmoplantar keratoderma, punctate type 1A (PPKP1A)

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About AAGAB

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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