|(C;C)||0||common in clinvar|
|(C;T)||3.9||Probably Benign Rett Syndrome genotype: Feedback Wanted|
rs61754424, also known as c.82C>T, p.Gln28Ter and Q16X, is a mutation in the MECP2 gene on the X chromosome.
The rare rs61754424(T) variant is listed in ClinVar as a pathogenic mutation leading to Rett syndrome, apparently based on it's listing in the RettBase as a nonsense mutation that is disease associated.
However, we have been unable to find verification for this. If you know of someone who is rs61754424(C;T), please contact us if you can say if the person is healthy, or, has symptoms of Rett syndrome.