Variant (rsID / SNP)
rs121912476
rs121912476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,910,608. Clinical significance in the table: risk factor.
Reference-table entries
KRT5Risk factor
- Clinical significance (as recorded)
- risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52910608
- Cytoband
- 12q13.13
- HGVS
- NM_000424.4(KRT5):c.1252G>A (p.Glu418Lys)
- Allele change
- Missense_E418K
Associated conditions / phenotypes
Epidermolysis bullosa simplex 2C, localized, modifier of
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.