Gene: MECP2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
0.710 GeneticVariation BEFREE QTc prolongation was associated with p.(Thr158Met) mutation versus the remaining six common mutations (hazard ratio 4.1, 95% confidence interval 1.4-12.0; p=0.01) but not with age, RSSS score, seizures, breathing abnormalities, or SSRIs. 31797351

2019
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749715
rs61749715
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR

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

2019
dbSNP: rs61749738
rs61749738
MECP2
0.010 GeneticVariation BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609

2017
dbSNP: rs61748421
rs61748421
MECP2
0.010 GeneticVariation BEFREE Individuals with the p.R168X mutation and heterozygous for the BDNF polymorphism were also at an increased risk of seizure onset (hazard ratio 5.3, 95% confidence interval 1.6-17.7) compared with those homozygous for the wild-type BDNF allele. 19349604

2009
dbSNP: rs56268439
rs56268439
MECP2
0.010 GeneticVariation BEFREE We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. 11896461

2002
dbSNP: rs61752371
rs61752371
MECP2
0.010 GeneticVariation BEFREE We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. 11896461

2002