Variant (rsID / SNP)
rs2020912
rs2020912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,755. Clinical significance in the table: Benign.
Reference-table entries
MSH6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48027755
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
- Allele change
- Missense_V748A
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 5|Lynch syndrome|Colorectal / endometrial cancer|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast|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.