Source: UNIPROT ×
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
0.880 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2004

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation UNIPROT Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004

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

2003

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

2002

dbSNP: rs28934906
rs28934906
0.880 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

2001

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation UNIPROT MeCP2 mutations in children with and without the phenotype of Rett syndrome. 11402105

2001

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation UNIPROT Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001

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

2001

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

2001

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

2000

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

2000

dbSNP: rs28934906
rs28934906
0.880 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
0.880 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000

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

2000

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation UNIPROT Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905

2000

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

2000

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

1999

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2018

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2004

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2002

dbSNP: rs28935468
rs28935468
0.860 GeneticVariation UNIPROT Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001

dbSNP: rs28935468
rs28935468
0.860 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

2001