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Variant (rsID / SNP)

rs730881813

MSH6

rs730881813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,023,107. 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
2:48023107
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
Allele change
Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary breast ovarian cancer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.