Variant (rsID / SNP)

rs63749980

rs63749980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,025,864. 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: 2:48025864
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
Allele change: Nonsense_R118X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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