Variant (rsID / SNP)
rs587782625
rs587782625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,032,062. Clinical significance in the table: Uncertain significance.
Reference-table entries
MSH6Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48032062
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
- Allele change
- Missense_A1021G
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Lynch syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
