COL3A1 - Gene browser

COL3A1

collagen type III alpha 1 chain

HCNC Approved Symbol: COL3A1 (HGNC:2201)
Genomic Coordinates: 2:188,974,373 - 189,012,746 (2q32.2)
Synonyms: EDS4A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the COL3A1 gene.

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

017
Patient count

Bruising susceptibility: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Short stature: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Translucent skin: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Hypotonia: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Stroke: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)