COL1A2 - Gene browser

COL1A2

collagen type I alpha 2 chain

HCNC Approved Symbol: COL1A2 (HGNC:2198)
Genomic Coordinates: 7:94,394,895 - 94,431,227 (7q21.3)
Synonyms: OI4
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

33Patients

In total, 33 patients were diagnosed with a variant in the COL1A2 gene.

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

033
Patient count

Bone fractures: 10 (30.3%)
Patient Count: 10 (30.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (30.3%)
Blue sclera: 7 (21.2%)
Patient Count: 7 (21.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (21.2%)
Dentinogenesis imperfecta: 7 (21.2%)
Patient Count: 7 (21.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (21.2%)
Blue sclerae: 5 (15.2%)
Patient Count: 5 (15.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (15.2%)
Bowed femur: 4 (12.1%)
Patient Count: 4 (12.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.1%)