COL6A3 - Gene browser

COL6A3

collagen type VI alpha 3 chain

HCNC Approved Symbol: COL6A3 (HGNC:2213)
Genomic Coordinates: 2:237,324,018 - 237,414,164 (2q37.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the COL6A3 gene.

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

09
Patient count

Hypotonia: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Muscle weakness: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Gross motor delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Achilles tendon contracture: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Difficulty climbing stairs: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)