rs121434513

This is a variant in the AAMP gene that changes a alanine to an proline.

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ClinVar annotation

Uncertain Significance★★★☆
6 submitters4 publications

Paroxysmal nonkinesigenic dyskinesia; Paroxysmal nonkinesigenic dyskinesia 1 (PNKD1)

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About AAMP

The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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