COL5A1 - Gene browser

COL5A1

collagen type V alpha 1 chain

HCNC Approved Symbol: COL5A1 (HGNC:2209)
Genomic Coordinates: 9:134,641,803 - 134,844,843 (9q34.3)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the COL5A1 gene.

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

07
Patient count

Keloids: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Aortic root aneurysm: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Atrophic scarring: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Atrophic scars: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Finger joint hyperextensibility: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)