Variant (rsID / SNP)

rs63750328

rs63750328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,698,123. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MSH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:47698123
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
Allele change: Missense_E561K

Associated conditions / phenotypes

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