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Variant (rsID / SNP)

rs63750875

MSH2

rs63750875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,702,310. 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
2:47702310
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
Allele change
Missense_A636P

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Muir-Torré syndrome|Turcot syndrome|Lynch syndrome 1|Carcinoma of colon

Public references

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