Home > Gene Browser > KRT14
KRT14
- Synonyms
- CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ
- External resources
- NCBI3861
- OMIM148066
- EnsemblENSG00000186847
- HGNCHGNC:6416
- Summary
- This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 27
- Likely pathogenic
- 8
- VUS
- 19,408
- Likely benign
- 476
- Benign
- 38
Patient phenotypes
Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on KRT14 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the integument
- 35.7%
- Abnormality of the eye
- 21.4%
- Abnormality of the nervous system
- 17.9%
- Abnormality of the musculoskeletal system
- 7.1%
- Abnormality of blood and blood-forming tissues
- 3.6%
- Abnormality of head or neck
- 3.6%
- Abnormality of the cardiovascular system
- 3.6%
- Abnormality of the ear
- 3.6%
- Abnormality of the endocrine system
- 3.6%
- Growth abnormality
- 3.6%
- Abnormal cellular phenotype
- 0%
- Abnormality of limbs
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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