Variant (rsID / SNP)
rs186240214
rs186240214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,030,630. 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
- 2:48030630
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
- Allele change
- Missense_P952S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5|Endometrial carcinoma|Turcot syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.