Variant (rsID / SNP)

rs63750790

rs63750790 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,703,564. 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: 2:47703564
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
Allele change: Missense_M688I

Associated conditions / phenotypes

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