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Variant (rsID / SNP)

rs1042819

MSH6

rs1042819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,289. 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
2:48026289
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
Allele change
Synonymous_P259P

Associated conditions / phenotypes

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

Public references

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