rs483352912

This is a variant in the ADAM10 gene that changes a proline to an serine.

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ClinVar annotation

Pathogenic
1 publication

Reticulate acropigmentation of Kitamura (RAK)

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About ADAM10

Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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