CFAP43 Chromosome 10
Cilia and flagella associated protein 43
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What This Gene Does
This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"WD repeat domain containing|Cilia and flagella associated"
Locus Type
gene with protein product
Location
10q25.1
Ensembl
ENSG00000197748
Associated Conditions (3)
Spermatogenic failure 19
Normal pressure hydrocephalus
CFAP43-related disorder
Key Variants
RS138274272
Conflicting classifications of pathogenicity
Health Risk
RS138825875
Conflicting classifications of pathogenicity
Spermatogenic failure 19, Spermatogenic failure 19
Health Risk
RS139015694
Conflicting classifications of pathogenicity
Normal pressure hydrocephalus, Normal pressure hydrocephalus
Health Risk
RS142762463
Conflicting classifications of pathogenicity
Health Risk
RS144236614
Conflicting classifications of pathogenicity
CFAP43-related disorder, CFAP43-related disorder
Health Risk
RS146971757
Conflicting classifications of pathogenicity
CFAP43-related disorder, CFAP43-related disorder
Health Risk
RS35021397
Conflicting classifications of pathogenicity
CFAP43-related disorder, CFAP43-related disorder
Health Risk
RS41291844
Conflicting classifications of pathogenicity
CFAP43-related disorder, CFAP43-related disorder
Health Risk
RS2087918488
Likely pathogenic
Normal pressure hydrocephalus, Normal pressure hydrocephalus
Health Risk
RS2493499292
Likely pathogenic
CFAP43-related disorder, CFAP43-related disorder
Health Risk
RS1131692266
Pathogenic
Spermatogenic failure 19, Spermatogenic failure 19
Health Risk
RS1327299547
Pathogenic
Normal pressure hydrocephalus, Normal pressure hydrocephalus
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138274272 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138825875 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS139015694 | Health Risk | Conflicting classifications of pathogenicity | Normal pressure hydrocephalus, Normal pressure hydrocephalus |
| RS142762463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144236614 | Health Risk | Conflicting classifications of pathogenicity | CFAP43-related disorder, CFAP43-related disorder |
| RS146971757 | Health Risk | Conflicting classifications of pathogenicity | CFAP43-related disorder, CFAP43-related disorder |
| RS35021397 | Health Risk | Conflicting classifications of pathogenicity | CFAP43-related disorder, CFAP43-related disorder |
| RS41291844 | Health Risk | Conflicting classifications of pathogenicity | CFAP43-related disorder, CFAP43-related disorder |
| RS2087918488 | Health Risk | Likely pathogenic | Normal pressure hydrocephalus, Normal pressure hydrocephalus |
| RS2493499292 | Health Risk | Likely pathogenic | CFAP43-related disorder, CFAP43-related disorder |
| RS1131692266 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS1327299547 | Health Risk | Pathogenic | Normal pressure hydrocephalus, Normal pressure hydrocephalus |
| RS138423878 | Health Risk | Pathogenic | — |
| RS139080358 | Health Risk | Pathogenic | Normal pressure hydrocephalus, Normal pressure hydrocephalus |
| RS147356105 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS1554861288 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS1554862953 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS1554882484 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS373911488 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS376788209 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS753300178 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS760609580 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |
| RS768831533 | Health Risk | Pathogenic | Spermatogenic failure 19, Spermatogenic failure 19 |