Probably Benign Rett Syndrome genotype: Feedback Welcome |
Geno
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Mag
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Summary
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(C;C)
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0
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common in clinvar
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(C;T)
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1.9
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Probably Benign Rett Syndrome genotype: Feedback Welcome
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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.