rs193922372(-;-)
From SNPedia
| double deletion (mutation); Lynch syndrome? but see warning |
| Is a | genotype |
| of | rs193922372 |
| Gene | MSH2 |
| Chromosome | 2 |
| Position | 47,429,673 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 3 | double deletion (mutation); Lynch syndrome? but see warning |
| (-;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT) | 6 | Lynch syndrome mutation (reported) |
| (ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT;ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT) | 0 | common in clinvar |
due to the unusual nature of this deletion mutation (being quite large for an entry in dbSNP), and since double mutations are so rare as to be ~unheard of, be extra cautious in any interpretation of this genotype
