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Variant (rsID / SNP)

rs730881802

MSH6

rs730881802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,172. 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
2:48026172
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
Allele change
Synonymous_A220A

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast

Public references

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