rs188114474

This variant is located in the SPEF2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About SPEF2

Involved in sperm axoneme assembly. Located in cytosol; nuclear body; and sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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