Variant (rsID / SNP)
rs267608024
rs267608024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,710,023. 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
- 2:47710023
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter)
- Allele change
- Nonsense_E914X
Associated conditions / phenotypes
Lynch syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
