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
RS755315693 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS755504361 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS755802373 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS755939601 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS755959856 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS756491638 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS757028149 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS759898401 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinal dystrophy
RS759998867 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS760501465 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS761080545 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Retinal dystrophy
RS761503137 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS761692949 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS762750524 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS762792738 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS762973022 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS763140298 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS763362512 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Saldino-Mainzer syndrome, Inborn genetic diseases
RS763449097 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS763709094 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS764275810 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS764912104 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS764946729 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS765923171 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS766316995 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS766380874 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Inborn genetic diseases
RS767213195 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa, Retinitis pigmentosa 80
RS767836990 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS767997025 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinitis pigmentosa 80
RS769075694 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa
RS769420945 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS770636131 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS770890983 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS771030841 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS771294438 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinitis pigmentosa 80
RS771632573 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS771765849 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS773095902 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS773225207 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS773701460 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 80, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS773768491 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS774170824 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS774482510 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Inborn genetic diseases
RS774892063 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS775044452 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS775156902 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS776567773 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS776789813 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS777181948 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS778311141 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
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