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Variant (rsID / SNP)

rs202127474

MSH6

rs202127474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,506. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MSH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:48027506
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
Allele change
Missense_I665T

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms

Public references

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