rs144092086

This variant is located in the PMFBP1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
3 submitters

PMFBP1-related disorder; not provided; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Gastric cancer; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma

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About PMFBP1

Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [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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