Variant (rsID / SNP)
rs267607473
rs267607473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6B. Location: chromosome 12, position 52,841,605. Clinical significance in the table: Pathogenic.
Reference-table entries
KRT6BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52841605
- Cytoband
- 12q13.13
- HGVS
- NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)
- Allele change
- Missense_E461K
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.