rs148312697

This is a variant in the ADAMTS13 gene that changes a aspartate to an histidine.

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ClinVar annotation

Pathogenic★☆☆☆
11 submitters13 publications

ADAMTS13-related disorder; Upshaw-Schulman syndrome (TTP); not specified

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About ADAMTS13

This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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