COL4A3 - Gene browser

COL4A3

collagen type IV alpha 3 chain

HCNC Approved Symbol: COL4A3 (HGNC:2204)
Genomic Coordinates: 2:227,164,624 - 227,314,792 (2q36.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

88Patients

In total, 88 patients were diagnosed with a variant in the COL4A3 gene.

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

088
Patient count

Proteinuria: 35 (39.8%)
Patient Count: 35 (39.8%)
% of total patients presenting each phenotype is shown in parentheses.
35 (39.8%)
Hematuria: 32 (36.4%)
Patient Count: 32 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
32 (36.4%)
Chronic kidney disease: 16 (18.2%)
Patient Count: 16 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
16 (18.2%)
Pain: 6 (6.8%)
Patient Count: 6 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (6.8%)
Nephrotic syndrome: 6 (6.8%)
Patient Count: 6 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (6.8%)