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
RS148904634 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS149359139 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS149642543 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS149845330 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS150014480 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS150129370 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, IFT140-related disorder
RS150276786 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS150498538 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS151198844 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS183261797 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS191927317 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS192986766 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS199758112 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS199826737 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Retinitis pigmentosa 80
RS199840711 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy, Saldino-Mainzer syndrome
RS199881467 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS200161877 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS200208525 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS200349591 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS200394007 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Retinal dystrophy
RS200561100 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS200748918 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS200765913 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinitis pigmentosa 80
RS200815296 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS201033016 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS201065562 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS201100248 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS201384469 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Microcephaly, Retinal dystrophy
RS201642067 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinal dystrophy
RS201851204 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS201871050 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS201884886 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS202129528 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Inborn genetic diseases
RS202189990 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS2141088947 Health Risk Conflicting classifications of pathogenicity See cases, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS35433680 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Sarcoma, Nonpapillary renal cell carcinoma
RS35823417 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS368227090 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS368232950 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder, Saldino-Mainzer syndrome
RS368713443 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS369058620 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS369246649 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS369425839 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Thyroid cancer, nonmedullary
RS369457143 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS369493147 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS369671309 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Retinitis pigmentosa 80
RS369848545 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases, Saldino-Mainzer syndrome
RS369998823 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS370263158 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS370562505 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
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