LTBP3 Chromosome 11

Latent transforming growth factor beta binding protein 3
80 variants 80 Health Risk

Upload your DNA to see your personal genotypes for variants in LTBP3.

What This Gene Does
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Latent transforming growth factor beta binding proteins
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000168056
Associated Conditions (9)
Inborn genetic diseases
Brachyolmia-amelogenesis imperfecta syndrome
Geleophysic dysplasia 3
LTBP3-related disorder
Intellectual disability
Amelogenesis imperfecta
Gastric cancer
Heritable Thoracic Aortic Disease
Geleophysic dysplasia 1
Key Variants
RS1054389826
Conflicting classifications of pathogenicity
Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
Health Risk
RS1335908921
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140268486
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS145001056
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS200693646
Conflicting classifications of pathogenicity
Inborn genetic diseases, LTBP3-related disorder, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS201987018
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS2135114515
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS28403592
Conflicting classifications of pathogenicity
Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
Health Risk
RS370306373
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Intellectual disability
Health Risk
RS376337792
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
Health Risk
RS377496105
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS527555537
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
Health Risk
All Variants (80)
RSID Category Clinical Significance Conditions
RS1054389826 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS1335908921 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140268486 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
RS145001056 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS200693646 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LTBP3-related disorder, Brachyolmia-amelogenesis imperfecta syndrome
RS201987018 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135114515 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS28403592 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS370306373 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Intellectual disability
RS376337792 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
RS377496105 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
RS527555537 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
RS569342451 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
RS71036212 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
RS753498326 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, LTBP3-related disorder, Inborn genetic diseases
RS769061467 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
RS769391647 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
RS779871744 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1064794603 Health Risk Likely pathogenic —
RS111950016 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1275684003 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1313103908 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1856377929 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135125210 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
RS2135143551 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496112558 Health Risk Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2496113296 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496117212 Health Risk Likely pathogenic LTBP3-related disorder, LTBP3-related disorder
RS2496123723 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496138515 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496165017 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496169379 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496173288 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2496175522 Health Risk Likely pathogenic LTBP3-related disorder, LTBP3-related disorder
RS2496177262 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS757974017 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS762654687 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS766900840 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome, Gastric cancer
RS875989823 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1188540819 Health Risk Pathogenic Geleophysic dysplasia 3, Geleophysic dysplasia 3
RS121909145 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1261169167 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1286042594 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Heritable Thoracic Aortic Disease, Brachyolmia-amelogenesis imperfecta syndrome
RS1347418307 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1363345814 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1402802838 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1554971742 Health Risk Pathogenic Geleophysic dysplasia 3, Geleophysic dysplasia 3
RS1856044450 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135120937 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135130818 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
1 2 Next »
Sign Up to Analyze Your DNA Log In