Variant: rs28934908 

    present in Gene: MECP2
    present in Chromosome: X
    Position on Chromosome: 154031409
    Alleles of this Variant: G/A;T

rs28934908 in MECP2 gene and ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PMID 26418480 2015 Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.

PMID 27465203 2016 Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 21831886 2011 MeCP2 Rett mutations affect large scale chromatin organization.

PMID 12325019 2002 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 12843318 2003 Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

PMID 11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.

rs28934908 in MECP2 gene and Mental Retardation, X-Linked, Syndromic 13 PMID 11309367 2001 MECP2 is highly mutated in X-linked mental retardation.

PMID 11885030 2002 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PMID 10986043 2000 A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

PMID 12325019 2002 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

PMID 16966553 2006 A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

PMID 17296936 2007 Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

PMID 11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.

PMID 12161600 2002 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

PMID 11805248 2002 A Rett syndrome MECP2 mutation that causes mental retardation in men.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

rs28934908 in MECP2 gene and Rett Syndrome PMID 14598336 2003 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

PMID 11885030 2002 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PMID 27465203 2016 Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

PMID 11805248 2002 A Rett syndrome MECP2 mutation that causes mental retardation in men.

PMID 24328834 2014 Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

PMID 27929079 2016 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.