rs2270784

This variant is located in the CFAP44 gene.

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Cervical cancer; Ovarian cancer; Sarcoma; Uterine carcinosarcoma; Lymphoma; Hepatocellular carcinoma; Uterine corpus endometrial carcinoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Clear cell carcinoma of kidney; Familial pancreatic carcinoma

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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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