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Variant (rsID / SNP)

rs190075874

MSH6

rs190075874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,719. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MSH6Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:48027719
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
Allele change
Missense_K736T

Associated conditions / phenotypes

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

Public references

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