Variant (rsID / SNP)
rs3211299
rs3211299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,018,236. Clinical significance in the table: Benign.
Reference-table entries
MSH6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48018236
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Colorectal cancer, hereditary nonpolyposis, type 5|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma|Carcinoma of colon|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.