COL6A2 - Gene browser

COL6A2

collagen type VI alpha 2 chain

HCNC Approved Symbol: COL6A2 (HGNC:2212)
Genomic Coordinates: 21:46,098,112 - 46,132,848 (21q22.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the COL6A2 gene.

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

020
Patient count

Proximal muscle weakness: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Gross motor delay: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Waddling gait: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Club foot: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Contractures: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)