COL1A1 - Gene browser

COL1A1

collagen type I alpha 1 chain

HCNC Approved Symbol: COL1A1 (HGNC:2197)
Genomic Coordinates: 17:50,184,101 - 50,201,631 (17q21.33)
Synonyms: OI4
Disease Associations: This gene is associated with the following 8 diseases in OMIM.

Diagnosed Cases

69Patients

In total, 69 patients were diagnosed with a variant in the COL1A1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

069
Patient count

Bone fractures: 28 (40.6%)
Patient Count: 28 (40.6%)
% of total patients presenting each phenotype is shown in parentheses.
28 (40.6%)
Blue sclerae: 23 (33.3%)
Patient Count: 23 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
23 (33.3%)
Blue sclera: 19 (27.5%)
Patient Count: 19 (27.5%)
% of total patients presenting each phenotype is shown in parentheses.
19 (27.5%)
Bone fragility: 10 (14.5%)
Patient Count: 10 (14.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (14.5%)
Bone fractures, multiple: 9 (13.0%)
Patient Count: 9 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (13.0%)