Variant (rsID / SNP)
rs267607982
rs267607982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,702,337. Clinical significance in the table: Uncertain significance.
Reference-table entries
MSH2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47702337
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
- Allele change
- Missense_Q645E
Associated conditions / phenotypes
Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.