IFT172 Chromosome 2
Intraflagellar transport 172
Upload your DNA to see your personal genotypes for variants in IFT172.
What This Gene Does
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"WD repeat domain containing|IFT-B2 complex"
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138002
Associated Conditions (21)
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Retinal dystrophy
Inborn genetic diseases
Optic atrophy
Cervical cancer
Familial cancer of breast
Asphyxiating thoracic dystrophy 1
Intellectual disability
Short-rib thoracic dysplasia 10 without polydactyly
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Anophthalmia-microphthalmia syndrome
Bardet-Biedl syndrome
Retinitis pigmentosa
Short-rib thoracic dysplasia 10 with polydactyly
Joubert syndrome
+1 more conditions
Key Variants
RS1011923461
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS115716101
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS1238278691
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy
Health Risk
RS1259207198
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS1270472738
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
Health Risk
RS1346517687
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy
Health Risk
RS137868356
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20
Health Risk
RS137906877
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases
Health Risk
RS138511988
Conflicting classifications of pathogenicity
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder
Health Risk
RS138604630
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder
Health Risk
RS139229844
Conflicting classifications of pathogenicity
Inborn genetic diseases, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
Health Risk
RS139560074
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder
Health Risk
All Variants (196)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1011923461 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS115716101 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1238278691 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy |
| RS1259207198 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS1270472738 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS1346517687 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy |
| RS137868356 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS137906877 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS138511988 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS138604630 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS139229844 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS139560074 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS140967266 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS141086523 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS141098495 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS141440865 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS142409945 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS143520040 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS144868723 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy |
| RS145541911 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS146332658 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS146615936 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS147303046 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS147394910 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS147744868 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS149065251 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS150739354 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS150882197 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS184506506 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Retinal dystrophy |
| RS186020523 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS187728607 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS189236939 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |
| RS190366845 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS200884031 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS201231401 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS201356906 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS201840472 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS201921339 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS202089120 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS367930028 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS368343162 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS368373262 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS369191459 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS369466577 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Inborn genetic diseases |
| RS370097039 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20 |
| RS370108416 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS370407165 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, IFT172-related disorder |
| RS370903625 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Inborn genetic diseases |
| RS371658303 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly, Bardet-Biedl syndrome 20 |
| RS373382907 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, IFT172-related disorder |