IFT140 Chromosome 16
Intraflagellar transport 140
Upload your DNA to see your personal genotypes for variants in IFT140.
What This Gene Does
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"WD repeat domain containing|IFT-A complex"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000187535
Associated Conditions (35)
Saldino-Mainzer syndrome
Inborn genetic diseases
Nephronophthisis
Retinal dystrophy
IFT140-related disorder
Retinitis pigmentosa 80
Ovarian serous cystadenocarcinoma
Cleft palate
Gastric cancer
Familial cancer of breast
Retinitis pigmentosa
Microcephaly
Cranioectodermal dysplasia 5
See cases
Sarcoma
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Thymoma
+15 more conditions
Key Variants
RS1019259823
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
Health Risk
RS1049601354
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
Health Risk
RS1057518064
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Nephronophthisis, Saldino-Mainzer syndrome
Health Risk
RS112545558
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Retinal dystrophy, IFT140-related disorder
Health Risk
RS113216558
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
Health Risk
RS1276436237
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
Health Risk
RS1323647622
Conflicting classifications of pathogenicity
Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
Health Risk
RS1330112951
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
Health Risk
RS1339640657
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
Health Risk
RS1372854875
Conflicting classifications of pathogenicity
Retinal dystrophy, Saldino-Mainzer syndrome, Retinal dystrophy
Health Risk
RS137925718
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
Health Risk
RS138166567
Conflicting classifications of pathogenicity
Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
Health Risk
All Variants (355)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS545658252 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS554927827 | Health Risk | Pathogenic | Retinitis pigmentosa 80, Renal cyst, IFT140-related disorder |
| RS559314300 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, IFT140-related disorder, Asphyxiating thoracic dystrophy 1 |
| RS562033874 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS587776909 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Jeune thoracic dystrophy, Retinitis pigmentosa 80 |
| RS754400742 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS764770536 | Health Risk | Pathogenic | Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Saldino-Mainzer syndrome, Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
| RS770731272 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, IFT140-related disorder, Retinitis pigmentosa 80 |
| RS773372123 | Health Risk | Pathogenic | Retinitis pigmentosa, Saldino-Mainzer syndrome, Retinitis pigmentosa |
| RS773614995 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS774547622 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS777862012 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS777889289 | Health Risk | Pathogenic | Retinitis pigmentosa 80, Retinitis pigmentosa 80 |
| RS777990630 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS780721001 | Health Risk | Pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS794727473 | Health Risk | Pathogenic | — |
| RS1002670900 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80 |
| RS1172857937 | Health Risk | Pathogenic/Likely pathogenic | IFT140-related disorder, Saldino-Mainzer syndrome, Retinitis pigmentosa 80 |
| RS1206753537 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, IFT140-related disorder, Renal cyst |
| RS1226646214 | Health Risk | Pathogenic/Likely pathogenic | IFT140-related disorder, Polycystic kidney disease, Saldino-Mainzer syndrome |
| RS1257804746 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS1307461796 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS140039128 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Retinitis pigmentosa |
| RS1403669200 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS1423102192 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Retinitis pigmentosa |
| RS1431530916 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS1432688490 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Retinal dystrophy |
| RS144513458 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder |
| RS1449774485 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS1471379682 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder |
| RS1555478654 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS1567327347 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS201188361 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Jeune thoracic dystrophy, Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene |
| RS2034013225 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS2034747055 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Saldino-Mainzer syndrome, Retinal dystrophy |
| RS2035847573 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Saldino-Mainzer syndrome, Retinal dystrophy |
| RS2040425342 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS2141179932 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS2141185231 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS2141540660 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, See cases |
| RS2141816540 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 80, Saldino-Mainzer syndrome, Retinitis pigmentosa 80 |
| RS2506128598 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS2507421825 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa, Retinitis pigmentosa 80 |
| RS2508572124 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 80, Saldino-Mainzer syndrome, Retinitis pigmentosa 80 |
| RS431905521 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Jeune thoracic dystrophy, Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
| RS758052634 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 80, Retinal dystrophy, Saldino-Mainzer syndrome |
| RS762111572 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS762817061 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80 |
| RS763737398 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |
| RS765669703 | Health Risk | Pathogenic/Likely pathogenic | Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome |