Variant (rsID / SNP)
rs59328451
rs59328451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT16. Location: chromosome 17, position 39,766,801. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KRT16Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39766801
- Cytoband
- 17q21.2
- HGVS
- NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)
- Allele change
- Missense_K354N
Associated conditions / phenotypes
Pachyonychia congenita 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.