Variant (rsID / SNP)
rs267607939
rs267607939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,643,537. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MSH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47643537
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
- Allele change
- Missense_P349A
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Renal cell carcinoma, papillary, 1|Lynch syndrome 1|Turcot syndrome|Muir-Torré syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.