Variant (rsID / SNP)
rs63751108
rs63751108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,657,020. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47657020
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
- Allele change
- Nonsense_R406X
Associated conditions / phenotypes
Lynch syndrome 1|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon|Lynch syndrome 1|Muir-Torré syndrome|Turcot syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.