Approved symbol | COL3A1 |
---|---|
Approved name | collagen type III alpha 1 chain |
HGCN ID | HGNC:2201 |
Previous symbols | EDS4A |
Inheritance | |
OMIM | 120180 |
Chromosome | 2q32.2 |
Panel(s) |
COL3A1 Analysis NGS Aortic and arterial dilatation/dissection NGS Congenital Heart Defects NGS Ehlers-Danlos syndromes NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Preconception panel (for consanguineous couples) |