COL5A2

COL5A2

collagen type V alpha 2 chain

HCNC Approved Symbol: COL5A2 (HGNC:2210)
Genomic Coordinates: 2:189,031,898 - 189,441,111 (2q32.2)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

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Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the COL5A2 gene.

Frequently observed phenotypes(Top 5 only)

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

05
Patient count

Hypertelorism: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Scoliosis: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormal location of ears: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Broad forehead: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Cholelithiasis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)

Last updated: 2024-06-30