Variant (rsID / SNP)
rs77688767
rs77688767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT9. Location: chromosome 17, position 39,724,592. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KRT9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39724592
- Cytoband
- 17q21.2
- HGVS
- NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
- Allele change
- Missense_C406R
Associated conditions / phenotypes
Epidermolytic palmoplantar keratoderma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.