Variant (rsID / SNP)
rs58852768
rs58852768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT10. Location: chromosome 17, position 38,978,372. Clinical significance in the table: Pathogenic.
Reference-table entries
KRT10Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:38978372
- Cytoband
- 17q21.2
- HGVS
- NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)
- Allele change
- Missense_R156C
Associated conditions / phenotypes
Bullous ichthyosiform erythroderma|Annular epidermolytic ichthyosis|Congenital reticular ichthyosiform erythroderma|Bullous ichthyosiform erythroderma|Epidermolytic acanthoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.