rs781093100

This variant is located in the SPINK2 gene.

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ClinVar annotation

Likely Benign

1 submitter

SPINK2-related disorder

About SPINK2

This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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