Variant (rsID / SNP)
rs63749873
rs63749873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,023,042. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48023042
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Lynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.