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rs59349773 has not been reported to ClinVar. Refer to dbSNP record rs59349773 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs59349773

  • Clinical significance: not reported in ClinVar
  • Reference allele: T
  • Variation alleles: C, G
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000017.11: 41,612,323
  • GRCh37.p13: NC_000017.10: 39,768,575
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT16
(Q122R)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GLikely pathogenic
KRT16
(Q122P)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GPathogenic