Variant (rsID / SNP)
rs869312769
rs869312769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,473. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MSH6Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:48026473
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.1352del (p.Phe451fs)
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
