COL4A5 - Gene browser

COL4A5

collagen type IV alpha 5 chain

HCNC Approved Symbol: COL4A5 (HGNC:2207)
Genomic Coordinates: 23:108,439,838 - 108,697,545 (Xq22.3)
Synonyms: ASLN, ATS
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

112Patients

In total, 112 patients were diagnosed with a variant in the COL4A5 gene.

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

0112
Patient count

Proteinuria: 47 (42.0%)
Patient Count: 47 (42.0%)
% of total patients presenting each phenotype is shown in parentheses.
47 (42.0%)
Hematuria: 39 (34.8%)
Patient Count: 39 (34.8%)
% of total patients presenting each phenotype is shown in parentheses.
39 (34.8%)
Microscopic hematuria: 11 (9.8%)
Patient Count: 11 (9.8%)
% of total patients presenting each phenotype is shown in parentheses.
11 (9.8%)
Nephropathy: 8 (7.1%)
Patient Count: 8 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (7.1%)
Chronic kidney disease: 7 (6.3%)
Patient Count: 7 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (6.3%)