IFT140 Chromosome 16

Intraflagellar transport 140
355 variants 355 Health Risk

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
RS1019259823 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS1049601354 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS1057518064 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Nephronophthisis, Saldino-Mainzer syndrome
RS112545558 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, IFT140-related disorder
RS113216558 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS1276436237 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS1323647622 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1330112951 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1339640657 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1372854875 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinal dystrophy
RS137925718 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS138166567 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS139286030 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS139619013 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Ovarian serous cystadenocarcinoma
RS140159548 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS140403660 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS140941344 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS141254616 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinal dystrophy
RS141392067 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS141471091 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS141779807 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS141986611 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS141993139 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS141993646 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Inborn genetic diseases
RS1420709766 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS142106374 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS142668269 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS143491016 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Familial cancer of breast, Saldino-Mainzer syndrome
RS143899594 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS144028766 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS144726977 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Inborn genetic diseases
RS144938800 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS145267929 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS145718272 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS145746065 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS145814071 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinal dystrophy
RS145858131 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS145895414 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS146277966 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, IFT140-related disorder
RS146464282 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS146480546 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS146537096 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS147292597 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Microcephaly, Retinitis pigmentosa 80
RS147556035 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS148093208 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS148240226 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinal dystrophy
RS148433720 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS148462329 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Retinal dystrophy
RS148557575 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS148663745 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
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