rs547986220

This variant is located in the ADAM18 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ADAM18

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 biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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