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Variant (rsID / SNP)

rs267608068

MSH6

rs267608068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,183. Clinical significance in the table: Pathogenic.

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Reference-table entries

MSH6Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:48027183
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
Allele change
Nonsense_C557X

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|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.