rs866096259

This is a stop gained variant in the CFAP44 gene.

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ClinVar annotation

Pathogenic★★★☆
4 submitters2 publications

CFAP44-related disorder; Spermatogenic failure 20

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About CFAP44

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [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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