COL1A1 Chromosome 17
Collagen type I alpha 1 chain
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What This Gene Does
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000108821
Associated Conditions (67)
Bone mineral density variation quantitative trait locus
Osteogenesis imperfecta type I
Cardiovascular phenotype
Osteogenesis imperfecta
Infantile cortical hyperostosis
Ehlers-Danlos syndrome
arthrochalasia type
See cases
COL1A1-related disorder
Connective tissue disorder
2
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
7 conditions
Hypertrophic cardiomyopathy
Keratoconus
Osteogenesis imperfecta with normal sclerae
dominant form
Colon adenocarcinoma
Familial cancer of breast
+47 more conditions
Key Variants
RS1107946
association
Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus
Health Risk
RS11327935
association
Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus
Health Risk
RS1800012
association
Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus
Health Risk
RS1009435359
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
Health Risk
RS1014402681
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
Health Risk
RS1033263382
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Cardiovascular phenotype, Osteogenesis imperfecta type I
Health Risk
RS1051473344
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type I, Osteogenesis imperfecta, Infantile cortical hyperostosis
Health Risk
RS1061970
Conflicting classifications of pathogenicity
Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasia type
Health Risk
RS113950465
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta type I, Cardiovascular phenotype
Health Risk
RS115997082
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, arthrochalasia type, Infantile cortical hyperostosis
Health Risk
RS117672175
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasia type
Health Risk
RS1176922412
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Osteogenesis imperfecta type I, Cardiovascular phenotype
Health Risk
All Variants (1224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS946705319 | Health Risk | Pathogenic | — |
| RS1114167378 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, 8 conditions, Osteogenesis imperfecta type I |
| RS1114167402 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I |
| RS1114167407 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1114167408 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Cardiovascular phenotype |
| RS1131692326 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, COL1A1-related disorder, Osteogenesis imperfecta with normal sclerae |
| RS1135401953 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS1203106659 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form |
| RS1260429820 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form |
| RS1328384458 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form |
| RS141726413 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1555571589 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, perinatal lethal, Osteogenesis imperfecta |
| RS1555571755 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, 8 conditions, Osteogenesis imperfecta type I |
| RS1555571849 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1555572316 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS1555574303 | Health Risk | Pathogenic/Likely pathogenic | 7 conditions, 7 conditions |
| RS1555575456 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1567755602 | Health Risk | Pathogenic/Likely pathogenic | COL1A1-related disorder, Osteogenesis imperfecta, perinatal lethal |
| RS1567764387 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS1598284183 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form |
| RS1598288593 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasia type |
| RS1598290382 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS1598299070 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS1906989648 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS1907417140 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS1907512918 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS193922139 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Cardiovascular phenotype |
| RS193922143 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta type III |
| RS193922144 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, 8 conditions |
| RS193922145 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS193922151 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS193922157 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS193922158 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS201398339 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144537008 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form |
| RS2144543339 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, perinatal lethal, Osteogenesis imperfecta |
| RS2144547648 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta, COL1A1-related disorder |
| RS2144571189 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS2144576822 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, 8 conditions, Osteogenesis imperfecta type I |
| RS2144593670 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144594870 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type III, Osteogenesis imperfecta type I, Osteogenesis imperfecta type III |
| RS2509166330 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2509209539 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2509227703 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2509245316 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2509246983 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, 8 conditions, Osteogenesis imperfecta type I |
| RS2509247867 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2509256204 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2509259283 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasia type |
| RS66494876 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, perinatal lethal, Osteogenesis imperfecta type III |