Approved symbol | COL1A1 |
---|---|
Approved name | collagen type I alpha 1 chain |
HGCN ID | HGNC:2197 |
Previous symbols | |
Inheritance | |
OMIM | 120150 |
Chromosome | 17q21.33 |
Panel(s) |
COL1A1 Analysis NGS Aortic and arterial dilatation/dissection NGS Ehlers-Danlos syndromes NGS Glaucoom NGS Mendeliome NGS Osteogenesis imperfecta and related disorders NGS Osteopetrosis and dense bone dysplasia NGS Skeletal Dysplasia |