|(-;AAT)||6||Lynch syndrome, pathogenic mutation|
|(AAT;AAT)||0||common in clinvar|
rs63749831, also known as c.1786_1788delAAT, p.Asn596del and N596del, is a very rare mutation in the MSH2 gene on chromosome 2.
Acting in an autosomal dominant manner, the rs63749831(-) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.
See also OMIM 609309.0005
Although present on the v3 chip under it's real (public) name, it appears that this mutation has been renamed by 23andMe to a private name, i5900861, on their v4 chip.
|Disease||Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided|
|CLNDBN||Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided|
|CLNSRC||Children's Hospital of Eastern Ontario International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant|
|CLNACC||RCV000001827.4, RCV000076285.3, RCV000128908.4, RCV000202293.1,|