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Variant (rsID / SNP)

rs63750617

MSH6

rs63750617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,030,612. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MSH6Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:48030612
Cytoband
2p16.3
HGVS
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
Allele change
Missense_R946C

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colon cancer|Malignant tumor of breast|Breast carcinoma

Public references

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