Variant (rsID / SNP)
rs58472472
rs58472472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT18, KRT8. Location: chromosome 12, position 53,345,296. Clinical significance in the table: Likely benign.
Reference-table entries
KRT18Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53345296
- Cytoband
- 12q13.13
- HGVS
- NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
- Allele change
- Missense_S230T
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.