rs2536569383

This variant is located in the ADAM2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ADAM2

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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