COL4A1 - Gene browser

COL4A1

collagen type IV alpha 1 chain

HCNC Approved Symbol: COL4A1 (HGNC:2202)
Genomic Coordinates: 13:110,148,963 - 110,307,157 (13q34)
Synonyms
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

34Patients

In total, 34 patients were diagnosed with a variant in the COL4A1 gene.

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

034
Patient count

Seizures: 6 (17.6%)
Patient Count: 6 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (17.6%)
Epilepsy: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Global developmental delay: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Microcephaly: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Periventricular leukomalacia: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)