Gene entry
KRT1
keratin 1
- Chromosome
- 12
- Cytoband
- 12q13.13
- Variants (rsID)
- 7
KRT1 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 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs144520865Benignsingle nucleotide variantBullous ichthyosiform erythroderma|Diffuse nonepidermolytic palmoplantar keratoderma
- rs17678945Benignsingle nucleotide variantDiffuse nonepidermolytic palmoplantar keratoderma|Bullous ichthyosiform erythroderma
- rs828367Benignsingle nucleotide variantDiffuse nonepidermolytic palmoplantar keratoderma|Bullous ichthyosiform erythroderma
- rs57837128Pathogenicsingle nucleotide variantAnnular epidermolytic ichthyosis
- rs59151464Pathogenicsingle nucleotide variant
- rs60297570Pathogenicsingle nucleotide variant
- rs61218439Pathogenicsingle nucleotide variantAnnular epidermolytic ichthyosis
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.