Variant (rsID / SNP)

rs28928894

rs28928894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT16. Location: chromosome 17, position 39,768,579. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT16Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:39768579
Cytoband: 17q21.2
HGVS: NM_005557.4(KRT16):c.362T>C (p.Met121Thr)
Allele change: Missense_M121T

Associated conditions / phenotypes

Pachyonychia congenita 1

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.