COL6A1 - Gene browser

COL6A1

collagen type VI alpha 1 chain

HCNC Approved Symbol: COL6A1 (HGNC:2211)
Genomic Coordinates: 21:45,981,770 - 46,005,048 (21q22.3)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

31Patients

In total, 31 patients were diagnosed with a variant in the COL6A1 gene.

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

031
Patient count

Hypotonia: 4 (12.9%)
Patient Count: 4 (12.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.9%)
Myopathy: 4 (12.9%)
Patient Count: 4 (12.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.9%)
Muscle weakness: 4 (12.9%)
Patient Count: 4 (12.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.9%)
Contractures: 3 (9.7%)
Patient Count: 3 (9.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (9.7%)
Proximal muscle weakness: 3 (9.7%)
Patient Count: 3 (9.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (9.7%)