CFAP418 Chromosome 8
Cilia and flagella associated protein 418
Upload your DNA to see your personal genotypes for variants in CFAP418.
What This Gene Does
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Associated Conditions (22)
Retinitis pigmentosa
Cone-rod dystrophy 16
CFAP418-related disorder
Bardet-biedl syndrome 21
Retinal dystrophy
Sarcoma
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Cervical cancer
Colon adenocarcinoma
Gastric cancer
Uterine carcinosarcoma
Malignant tumor of esophagus
Lung cancer
Thymoma
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
+2 more conditions
Key Variants
RS115853053
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS140209136
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS143748636
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS143893647
Conflicting classifications of pathogenicity
CFAP418-related disorder, CFAP418-related disorder
Health Risk
RS1472751695
Conflicting classifications of pathogenicity
CFAP418-related disorder, CFAP418-related disorder
Health Risk
RS148114532
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS149998549
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS150311212
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa
Health Risk
RS150592488
Conflicting classifications of pathogenicity
Cone-rod dystrophy 16, Retinitis pigmentosa, Bardet-biedl syndrome 21
Health Risk
RS150859301
Conflicting classifications of pathogenicity
Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16
Health Risk
RS1811644695
Conflicting classifications of pathogenicity
Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16
Health Risk
RS199731969
Conflicting classifications of pathogenicity
Cone-rod dystrophy 16, Retinitis pigmentosa, CFAP418-related disorder
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115853053 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS140209136 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS143748636 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS143893647 | Health Risk | Conflicting classifications of pathogenicity | CFAP418-related disorder, CFAP418-related disorder |
| RS1472751695 | Health Risk | Conflicting classifications of pathogenicity | CFAP418-related disorder, CFAP418-related disorder |
| RS148114532 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS149998549 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS150311212 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinitis pigmentosa |
| RS150592488 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, Bardet-biedl syndrome 21 |
| RS150859301 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS1811644695 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS199731969 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, CFAP418-related disorder |
| RS35141355 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 16, Retinal dystrophy |
| RS371521751 | Health Risk | Conflicting classifications of pathogenicity | Bardet-biedl syndrome 21, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS377262548 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS751128167 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, CFAP418-related disorder, Retinal dystrophy |
| RS79305170 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 16, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS974031657 | Health Risk | Conflicting classifications of pathogenicity | CFAP418-related disorder, CFAP418-related disorder |
| RS1587357327 | Health Risk | Likely pathogenic | Bardet-biedl syndrome 21, Bardet-biedl syndrome 21 |
| RS751922029 | Health Risk | Likely pathogenic | Bardet-biedl syndrome 21, Bardet-biedl syndrome 21 |
| RS1064792852 | Health Risk | Pathogenic | Retinitis pigmentosa 64, Retinitis pigmentosa 64 |
| RS1064792853 | Health Risk | Pathogenic | Cone-rod dystrophy 16, Cone-rod dystrophy 16 |
| RS1085307121 | Health Risk | Pathogenic | Cone-rod dystrophy 16, Cone-rod dystrophy 16 |
| RS1402571742 | Health Risk | Pathogenic | — |
| RS1563477144 | Health Risk | Pathogenic | Bardet-biedl syndrome 21, Retinitis pigmentosa, Cone-rod dystrophy 16 |
| RS1563477343 | Health Risk | Pathogenic | — |
| RS1811856716 | Health Risk | Pathogenic | Cone-rod dystrophy 16, Cone-rod dystrophy 16 |
| RS2132161816 | Health Risk | Pathogenic | — |
| RS2132171444 | Health Risk | Pathogenic | — |
| RS2132171826 | Health Risk | Pathogenic | — |
| RS2537139887 | Health Risk | Pathogenic | Cone-rod dystrophy 16, Retinal dystrophy, Cone-rod dystrophy 16 |
| RS2537149434 | Health Risk | Pathogenic | — |
| RS387907137 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 64, Retinitis pigmentosa |
| RS757206516 | Health Risk | Pathogenic | — |
| RS766087213 | Health Risk | Pathogenic | Bardet-biedl syndrome 21, Bardet-biedl syndrome 21 |
| RS1060505042 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 64, CFAP418-related disorder, Retinitis pigmentosa 64 |
| RS1811931460 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 16, Bardet-biedl syndrome 21 |
| RS387907136 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 16, Bardet-biedl syndrome 21, Retinitis pigmentosa |
| RS748014296 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 64, Retinitis pigmentosa 64 |