Variant (rsID / SNP)
rs202145681
rs202145681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,705,625. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MSH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47705625
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
- Allele change
- Missense_E809K
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Malignant tumor of breast|Hereditary nonpolyposis colon cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.