COL4A6 - Gene browser

COL4A6

collagen type IV alpha 6 chain

HCNC Approved Symbol: COL4A6 (HGNC:2208)
Genomic Coordinates: 23:108,155,614 - 108,439,458 (Xq22.3)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the COL4A6 gene.

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

05
Patient count

Hearing abnormality: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Esophageal atresia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hypospadias: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Recurrent infections: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Sensorineural hearing impairment: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)