CFAP410 Chromosome 21
Cilia and flagella associated protein 410
Upload your DNA to see your personal genotypes for variants in CFAP410.
What This Gene Does
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Associated Conditions (9)
CFAP410-related disorder
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy
Retinitis pigmentosa
Axial spondylometaphyseal dysplasia
Leber congenital amaurosis
Cone dystrophy
Retinal disorder
See cases
Key Variants
RS1268187387
Conflicting classifications of pathogenicity
Health Risk
RS141195315
Conflicting classifications of pathogenicity
CFAP410-related disorder, CFAP410-related disorder
Health Risk
RS1478299726
Conflicting classifications of pathogenicity
Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
Health Risk
RS752399030
Conflicting classifications of pathogenicity
CFAP410-related disorder, CFAP410-related disorder
Health Risk
RS758835278
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS763821454
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS769039082
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS970527998
Conflicting classifications of pathogenicity
Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
Health Risk
RS1568986041
Likely pathogenic
Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
Health Risk
RS1568992782
Likely pathogenic
Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
Health Risk
RS1602093658
Likely pathogenic
Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia
Health Risk
RS2518051350
Likely pathogenic
Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1268187387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141195315 | Health Risk | Conflicting classifications of pathogenicity | CFAP410-related disorder, CFAP410-related disorder |
| RS1478299726 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS752399030 | Health Risk | Conflicting classifications of pathogenicity | CFAP410-related disorder, CFAP410-related disorder |
| RS758835278 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS763821454 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS769039082 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS970527998 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1568986041 | Health Risk | Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1568992782 | Health Risk | Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1602093658 | Health Risk | Likely pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS2518051350 | Health Risk | Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS749801652 | Health Risk | Likely pathogenic | — |
| RS770130993 | Health Risk | Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1114167892 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS1114167893 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS1131690801 | Health Risk | Pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1457263136 | Health Risk | Pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS1602071514 | Health Risk | Pathogenic | Retinitis pigmentosa, Axial spondylometaphyseal dysplasia, Retinitis pigmentosa |
| RS1602071524 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1602080173 | Health Risk | Pathogenic | — |
| RS2047653801 | Health Risk | Pathogenic | — |
| RS2047658370 | Health Risk | Pathogenic | — |
| RS2047686121 | Health Risk | Pathogenic | — |
| RS2047687010 | Health Risk | Pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS2146057228 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS2518047257 | Health Risk | Pathogenic | — |
| RS2518047556 | Health Risk | Pathogenic | — |
| RS2518048273 | Health Risk | Pathogenic | — |
| RS2518052287 | Health Risk | Pathogenic | — |
| RS2518053029 | Health Risk | Pathogenic | — |
| RS555164150 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Retinal dystrophy, Axial spondylometaphyseal dysplasia |
| RS746633371 | Health Risk | Pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS748531024 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, CFAP410-related disorder |
| RS752137434 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy with or without macular staphyloma, Retinal dystrophy |
| RS762237699 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS763623409 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Retinal dystrophy with or without macular staphyloma, Axial spondylometaphyseal dysplasia |
| RS778222701 | Health Risk | Pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS1131690800 | Health Risk | Pathogenic/Likely pathogenic | Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia |
| RS1322189782 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma |
| RS140451304 | Health Risk | Pathogenic/Likely pathogenic | Axial spondylometaphyseal dysplasia, Cone dystrophy, Retinitis pigmentosa |
| RS752395624 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS756970705 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy with or without macular staphyloma, Retinal dystrophy, Retinal dystrophy with or without macular staphyloma |
| RS774614339 | Health Risk | Pathogenic/Likely pathogenic | See cases, Retinal dystrophy with or without macular staphyloma, See cases |
| RS922930539 | Health Risk | Pathogenic/Likely pathogenic | Axial spondylometaphyseal dysplasia, Retinal dystrophy with or without macular staphyloma, Axial spondylometaphyseal dysplasia |