Variant (rsID / SNP)

rs63750132

rs63750132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,657,028. 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: 2:47657028
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
Allele change: Synonymous_Y408Y

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome

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.