Gene: MECP2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001
dbSNP: rs28934906
rs28934906
MECP2
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
MECP2
0.900 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522

2003
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2003
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934906
rs28934906
MECP2
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
MECP2
0.900 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. 11706982

2001
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202

2001
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936

2007
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105

2001
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202

2001
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT MeCP2 mutations in children with and without the phenotype of Rett syndrome. 11402105

2001