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
RS371077545 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS371561039 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS372148301 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS372183503 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Thymoma
RS372233286 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS373106880 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Retinal dystrophy
RS373111085 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS373651150 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS374262499 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS374661866 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS374874160 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS375975334 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS375979698 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS376151586 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS376722338 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS377319314 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS4786350 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS528350505 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS534052238 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS535064774 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS535810761 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS538114464 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS538791217 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
RS539181813 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS546498421 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS548992623 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Retinal dystrophy
RS549813139 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS554065722 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS554196965 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS555330165 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS555382397 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS555799779 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, IFT140-related disorder
RS558519810 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, IFT140-related disorder
RS561657958 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS566450108 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS566568065 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS568921640 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS569828117 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS571556177 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinitis pigmentosa 80
RS574028286 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS575196272 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS575485883 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS746697405 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome III, Asphyxiating thoracic dystrophy 1, Saldino-Mainzer syndrome
RS750381445 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS752659125 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS752664070 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, IFT140-related disorder
RS754312950 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, IFT140-related disorder
RS754338217 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS754373519 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS754753583 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, IFT140-related disorder
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