COL12A1 - Gene browser

COL12A1

collagen type XII alpha 1 chain

HCNC Approved Symbol: COL12A1 (HGNC:2188)
Genomic Coordinates: 6:75,084,326 - 75,206,053 (6q13-q14.1)
Synonyms: COL12A1L
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the COL12A1 gene.

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

06
Patient count

Joint laxity: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Motor delay: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
High palate: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Joint hypermobility: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Decrease/absent deep tendon reflexes: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)