COL4A4 - Gene browser

COL4A4

collagen type IV alpha 4 chain

HCNC Approved Symbol: COL4A4 (HGNC:2206)
Genomic Coordinates: 2:226,967,360 - 227,164,488 (2q36.3)
Synonyms: CA44
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

122Patients

In total, 122 patients were diagnosed with a variant in the COL4A4 gene.

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

0122
Patient count

Proteinuria: 53 (43.4%)
Patient Count: 53 (43.4%)
% of total patients presenting each phenotype is shown in parentheses.
53 (43.4%)
Hematuria: 51 (41.8%)
Patient Count: 51 (41.8%)
% of total patients presenting each phenotype is shown in parentheses.
51 (41.8%)
Microscopic hematuria: 20 (16.4%)
Patient Count: 20 (16.4%)
% of total patients presenting each phenotype is shown in parentheses.
20 (16.4%)
Chronic kidney disease: 14 (11.5%)
Patient Count: 14 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
14 (11.5%)
Pain: 8 (6.6%)
Patient Count: 8 (6.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (6.6%)