KRT14 - Gene browser

KRT14

keratin 14

HCNC Approved Symbol: KRT14 (HGNC:6416)
Genomic Coordinates: 17:41,582,279 - 41,586,895 (17q21.2)
Synonyms: EBS3, EBS4
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the KRT14 gene.

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

017
Patient count

Skin blistering: 7 (41.2%)
Patient Count: 7 (41.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (41.2%)
Blistering skin: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Epidermolytic hyperkeratosis: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Abnormal blistering of the skin: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Bullous congenital ichthyosiform erythroderma: 1 (5.9%)
Patient Count: 1 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.9%)