rs193922372(-;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT)
From SNPedia
Lynch syndrome mutation (reported) |
Is a | genotype |
of | rs193922372 |
Gene | MSH2 |
Chromosome | 2 |
Position | 47,429,673 |
mentioned | by |
Magnitude | 6 |
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 |
Listed in ClinVar as likely pathogenic for Lynch syndrome