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Variant (rsID / SNP)

rs1057517551

MSH6

rs1057517551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,029. 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
2:48026029
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.908dup (p.Met303fs)

Associated conditions / phenotypes

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

Public references

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