Variant (rsID / SNP)
rs58380626
rs58380626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT14. Location: chromosome 17, position 39,739,518. Clinical significance in the table: Pathogenic.
Reference-table entries
KRT14Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39739518
- Cytoband
- 17q21.2
- HGVS
- NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)
- Allele change
- Missense_Y415H
Associated conditions / phenotypes
Epidermolysis bullosa simplex, Koebner type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.