Gene: MECP2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
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: rs28934904
rs28934904
MECP2
0.880 GeneticVariation BEFREE RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. 19133691

2009
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation BEFREE RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. 19133691

2009
dbSNP: rs61751364
rs61751364
MECP2
0.770 GeneticVariation BEFREE RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. 19133691

2009
dbSNP: rs61751362
rs61751362
MECP2
0.730 GeneticVariation BEFREE We differentiated three R29</span>4X iPSC lines and their isogenic wild type control iPSC into neurons with high efficiency and consistency, and observed characteristic RTT pathology in R294X neurons. 21966470

2011
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. 29428602

2018
dbSNP: rs61750240
rs61750240
MECP2
0.760 GeneticVariation BEFREE A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). 17914728

2007
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005
dbSNP: rs61748421
rs61748421
MECP2
0.740 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005
dbSNP: rs61750240
rs61750240
MECP2
0.760 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005
dbSNP: rs61749721
rs61749721
MECP2
0.720 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation BEFREE A sister with R133C displayed classic RTT. 16122633

2005
dbSNP: rs267608475
rs267608475
MECP2
0.710 GeneticVariation BEFREE A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti. 10577905

1999
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation BEFREE 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: rs61751364
rs61751364
MECP2
0.770 GeneticVariation BEFREE 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: rs61750240
rs61750240
MECP2
0.760 GeneticVariation BEFREE Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). 11738872

2001
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584

2019
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation BEFREE Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation. 20815036

2010
dbSNP: rs61751362
rs61751362
MECP2
0.730 GeneticVariation BEFREE Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation. 20815036

2010
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934907
rs28934907
MECP2
0.840 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
MECP2
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: rs61748390
rs61748390
MECP2
0.810 GeneticVariation BEFREE Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. 12661945

2003
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation BEFREE 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