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Variant (rsID / SNP)

rs786204321

MSH2

rs786204321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,702,388. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MSH2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:47702388
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
Allele change
Nonsense_Q662X

Associated conditions / phenotypes

Carcinoma of colon|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.