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Variant (rsID / SNP)

rs267608122

MSH6

rs267608122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,790. 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
2:48033790
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
Allele change
Missense_R1204Q

Associated conditions / phenotypes

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

Public references

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