Variant (rsID / SNP)
rs63749999
rs63749999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,028,225. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48028225
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
- Allele change
- Nonsense_R905X
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Turcot syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colon cancer|Endometrial carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.