CFAP65 Chromosome 2
Cilia and flagella associated protein 65
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What This Gene Does
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000181378
Associated Conditions (3)
Non-syndromic male infertility due to sperm motility disorder
CFAP65-related disorder
Spermatogenic failure 40
Key Variants
RS74775944
Conflicting classifications of pathogenicity
Non-syndromic male infertility due to sperm motility disorder, Non-syndromic male infertility due to sperm motility disorder
Health Risk
RS141745438
Likely pathogenic
Health Risk
RS765822469
Likely pathogenic
CFAP65-related disorder, CFAP65-related disorder
Health Risk
RS1269179049
Pathogenic
Spermatogenic failure 40, Spermatogenic failure 40
Health Risk
RS1457312523
Pathogenic
Spermatogenic failure 40, Spermatogenic failure 40
Health Risk
RS1574628422
Pathogenic
Spermatogenic failure 40, Spermatogenic failure 40
Health Risk
RS747889116
Pathogenic
Health Risk
RS756973049
Pathogenic
Spermatogenic failure 40, Spermatogenic failure 40
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS74775944 | Health Risk | Conflicting classifications of pathogenicity | Non-syndromic male infertility due to sperm motility disorder, Non-syndromic male infertility due to sperm motility disorder |
| RS141745438 | Health Risk | Likely pathogenic | — |
| RS765822469 | Health Risk | Likely pathogenic | CFAP65-related disorder, CFAP65-related disorder |
| RS1269179049 | Health Risk | Pathogenic | Spermatogenic failure 40, Spermatogenic failure 40 |
| RS1457312523 | Health Risk | Pathogenic | Spermatogenic failure 40, Spermatogenic failure 40 |
| RS1574628422 | Health Risk | Pathogenic | Spermatogenic failure 40, Spermatogenic failure 40 |
| RS747889116 | Health Risk | Pathogenic | — |
| RS756973049 | Health Risk | Pathogenic | Spermatogenic failure 40, Spermatogenic failure 40 |