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Variant (rsID / SNP)

rs63749849

MSH2

rs63749849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,656,951. Clinical significance in the table: Pathogenic.

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Reference-table entries

MSH2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:47656951
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
Allele change
Nonsense_R383X

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Turcot syndrome|Muir-Torré syndrome|Hereditary nonpolyposis colon cancer|Lynch-like syndrome|Rhabdomyosarcoma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.