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Variant (rsID / SNP)

rs730881830

MSH6

rs730881830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,727. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MSH6Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Duplication
Chromosome / position
2:48033727
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer

Public references

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