Variant (rsID / SNP)

rs878853815

rs878853815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,635,668. 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: 2:47635668
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
Allele change: Nonsense_E114X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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