Variant (rsID / SNP)

rs547444746

rs547444746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,630,322. 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: 2:47630322
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.-9G>C
Allele change: Silent

Associated conditions / phenotypes

Lynch syndrome 1|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.