rs1172216017

This variant is located in the AP2S1 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

not provided; Familial hypocalciuric hypercalcemia 3

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About AP2S1

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all AP2S1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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