Variant (rsID / SNP)

rs374748889

rs374748889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,010,371. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MSH6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:48010371
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.-2G>T
Allele change: Silent

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.