Variant (rsID / SNP)
rs60554162
rs60554162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6A. Location: chromosome 12, position 52,882,122. Clinical significance in the table: Pathogenic.
Reference-table entries
KRT6APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52882122
- Cytoband
- 12q13.13
- HGVS
- NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)
- Allele change
- Missense_E472K
Associated conditions / phenotypes
Pachyonychia congenita 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.