Variant (rsID / SNP)
rs63751017
rs63751017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,853. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48027853
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
- Allele change
- Nonsense_R781X
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Endometrial carcinoma|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Carcinoma of colon|Breast carcinoma|Hereditary nonpolyposis colon cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.