COL7A1 - Gene browser

COL7A1

collagen type VII alpha 1 chain

HCNC Approved Symbol: COL7A1 (HGNC:2214)
Genomic Coordinates: 3:48,564,073 - 48,595,329 (3p21.31)
Synonyms: EBDCT, EBD1, EBR1
Disease Associations: This gene is associated with the following 9 diseases in OMIM.

Diagnosed Cases

67Patients

In total, 67 patients were diagnosed with a variant in the COL7A1 gene.

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

067
Patient count

Skin blistering: 18 (26.9%)
Patient Count: 18 (26.9%)
% of total patients presenting each phenotype is shown in parentheses.
18 (26.9%)
Pretibial epidermolysis bullosa: 17 (25.4%)
Patient Count: 17 (25.4%)
% of total patients presenting each phenotype is shown in parentheses.
17 (25.4%)
Blistering skin: 14 (20.9%)
Patient Count: 14 (20.9%)
% of total patients presenting each phenotype is shown in parentheses.
14 (20.9%)
Abnormal blistering of the skin: 11 (16.4%)
Patient Count: 11 (16.4%)
% of total patients presenting each phenotype is shown in parentheses.
11 (16.4%)
Bleeding with minor or no trauma: 11 (16.4%)
Patient Count: 11 (16.4%)
% of total patients presenting each phenotype is shown in parentheses.
11 (16.4%)