Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. 19133691

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutation screening in Rett syndrome patients. 10745042

2000

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Molecular diagnostic dilemmas in Rett syndrome. 22277191

2012

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome. 14560307

2004

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. 19217433

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients. 19309269

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. 19217433

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Rett syndrome: North American database. 18174548

2007

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. 20631224

2010

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). 22119903

2011

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties. 18499664

2008

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. 19133691

2009

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Epilepsy and the natural history of Rett syndrome. 20231667

2010