Gene entry
KRT5
keratin 5
- Chromosome
- 12
- Cytoband
- 12q13.13
- Variants (rsID)
- 18
KRT5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.13). Its official name is “keratin 5”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs11170164Benignsingle nucleotide variantEpidermolysis bullosa simplex
- rs11549949Benignsingle nucleotide variantEpidermolysis bullosa simplex
- rs11549950Benignsingle nucleotide variantEpidermolysis bullosa simplex
- rs4761924Benignsingle nucleotide variantEpidermolysis bullosa simplex
- rs638907Benignsingle nucleotide variantEpidermolysis bullosa simplex
- rs57348201Pathogenicsingle nucleotide variantEpidermolysis bullosa simplex 2B, generalized intermediate
- rs57599352Pathogenicsingle nucleotide variantEpidermolysis bullosa simplex|Epidermolysis bullosa simplex 2B, generalized intermediate
- rs58058996Pathogenicsingle nucleotide variantEpidermolysis bullosa simplex 2C, localized|Epidermolysis bullosa simplex 1C, localized
- rs58072617Pathogenicsingle nucleotide variant7 conditions|Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 2C, localized
- rs58619430Pathogenicsingle nucleotide variant
- rs59115483Pathogenicsingle nucleotide variantEpidermolysis bullosa simplex|Epidermolysis bullosa simplex 2C, localized
- rs60271599Pathogenicsingle nucleotide variant
- rs121912476Risk factorsingle nucleotide variantEpidermolysis bullosa simplex 2C, localized, modifier of
- rs267607448Uncertain significancesingle nucleotide variantEpidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex|Epidermolysis bullosa simplex 1C, localized
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.