Variant (rsID / SNP)

rs56707768

rs56707768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT9. Location: chromosome 17, position 39,727,763. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:39727763
Cytoband: 17q21.2
HGVS: NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)
Allele change: Missense_N161S

Associated conditions / phenotypes

Epidermolytic palmoplantar keratoderma

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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