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Variant (rsID / SNP)

rs63750636

MSH2

rs63750636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,703,631. 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
2:47703631
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
Allele change
Nonsense_R711X

Associated conditions / phenotypes

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