Variant (rsID / SNP)
rs191109849
rs191109849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,030,631. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MSH6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48030631
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
- Allele change
- Missense_P952L
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Carcinoma of colon|Endometrial carcinoma|Colorectal cancer, hereditary nonpolyposis, type 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.