Variant (rsID / SNP)

rs62635294

rs62635294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6A. Location: chromosome 12, position 52,886,462. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT6APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52886462
Cytoband: 12q13.13
HGVS: NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)
Allele change: Missense_N171D

Associated conditions / phenotypes

Pachyonychia congenita 3

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.