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Variant (rsID / SNP)

rs59616921

KRT9

rs59616921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT9. Location: chromosome 17, position 39,727,758. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KRT9Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:39727758
Cytoband
17q21.2
HGVS
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)
Allele change
Missense_R163W

Associated conditions / phenotypes

Palmoplantar keratoderma, epidermolytic, with knuckle pads|Epidermolytic palmoplantar keratoderma|Palmoplantar keratoderma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.