Variant (rsID / SNP)
rs57837128
rs57837128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,070,098. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KRT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53070098
- Cytoband
- 12q13.13
- HGVS
- NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)
- Allele change
- Missense_I479T
Associated conditions / phenotypes
Annular epidermolytic ichthyosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.