Variant (rsID / SNP)

rs58730926

rs58730926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT17. Location: chromosome 17, position 39,780,482. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT17Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:39780482
Cytoband: 17q21.2
HGVS: NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)
Allele change: Missense_R94C

Associated conditions / phenotypes

Steatocystoma multiplex|Pachyonychia congenita 2

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.