Variant (rsID / SNP)

rs60627726

rs60627726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6B. Location: chromosome 12, position 52,841,572. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT6BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52841572
Cytoband: 12q13.13
HGVS: NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys)
Allele change: Missense_E472K

Associated conditions / phenotypes

Pachyonychia congenita 4

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.