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Variant (rsID / SNP)

rs201334592

MSH2

rs201334592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,641,500. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MSH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:47641500
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
Allele change
Missense_D295E

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms

Public references

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