rs61754424
A SNP in the MECP2 gene on chromosome X. Its most notable genotype is A;G: Probably Benign Rett Syndrome genotype: Feedback Welcome
- Gene
- MECP2
- Location
- Chr X154,032,538 (GRCh38)
- Highest magnitude
- 1.9Minor
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableNot ratedProbably Benign Rett Syndrome genotype: Feedback Welcome
SNPedia records rs61754424 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MECP2 SNPs
- rs28934904A;GRett Syndrome (predicted)Very important
- rs28934906A;GRett Syndrome (predicted)Very important
- rs28934907A;GRett Syndrome (predicted)Very important
- rs28935468A;GRett Syndrome (predicted)Very important
- rs61748404C;GRett Syndrome (predicted)Very important
- rs61748421A;GRett Syndrome (predicted)Very important
- rs61749721A;GRett Syndrome (predicted)Very important
- rs61750240A;GRett Syndrome (predicted)Very important
Notes
From SNPedia
Show notes, about 230 words
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, and multiple carriers who have run Promethease reports report no issues with Rett syndrome, so the minor allele appears to actually be benign. If you know of someone who is rs61754424(C;T) , please feel free to contact us if you can say if the person is healthy, or, has symptoms of Rett syndrome.
A;G
This is reported in another database as a mutation leading to Rett Syndrome, however, see note below and at rs61754424. Please feel free to contact info@snpedia.com if you have personal information about this genotype and it's relation (if any) to Rett Syndrome in yourself or your family. Note: Last Updated November 2016: this genotype has been observed in data from two 23andMe unrelated users as well as two Ancestry.com users, all of whom have indicated they have no reason to believe they or anyone in their family had ever had any Rett syndrome features. We are provisionally concluding that this genotype is benign, despite what other databases may say (or have said) about it.
Source and license
Adapted from rs61754424 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.