COL13A1 - Gene browser | 3billion

COL13A1

COL13A1

collagen type XIII alpha 1 chain

HCNC Approved Symbol: COL13A1 (HGNC:2190)
Genomic Coordinates: 10:69,801,906 - 69,959,144 (10q22.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the COL13A1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Myasthenia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Myopathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

COL13A1 - Gene browser | 3billion