IFT80 Chromosome 3

Intraflagellar transport 80
80 variants 80 Health Risk

Upload your DNA to see your personal genotypes for variants in IFT80.

What This Gene Does
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"WD repeat domain containing|IFT-B2 complex"
Locus Type
gene with protein product
Location
3q25.33
Ensembl
ENSG00000068885
Associated Conditions (10)
Asphyxiating thoracic dystrophy 2
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 6 with or without polydactyly
IFT80-related disorder
Type IV short rib polydactyly syndrome
Connective tissue disorder
Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Clear cell carcinoma of kidney
Familial cancer of breast
Key Variants
RS1057523840
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
Health Risk
RS137853116
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS138004478
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS140202230
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Type IV short rib polydactyly syndrome, Asphyxiating thoracic dystrophy 2
Health Risk
RS142438830
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS143660757
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder
Health Risk
RS145679417
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
RS145776235
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS1714508262
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS184680258
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Connective tissue disorder, Inborn genetic diseases
Health Risk
RS199575501
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
Health Risk
RS201088893
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
Health Risk
All Variants (80)
RSID Category Clinical Significance Conditions
RS1386720978 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1420420542 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1450731316 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1716383227 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS201858128 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108234807 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108277143 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108362424 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108404264 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473070199 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473099407 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473099701 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473100842 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473211905 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473265518 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473456927 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473512064 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS754091712 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS760164436 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS773858865 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS781436346 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1241223548 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS1553753582 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1553764834 Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Type IV short rib polydactyly syndrome
RS202051267 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS369779153 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS369919590 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS372576954 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS778324141 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS779179710 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
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