Variant: rs1557135004 

    present in Gene: MECP2
    present in Chromosome: X
    Position on Chromosome: 154030479
    Alleles of this Variant: -/A

rs1557135004 in MECP2 gene and ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PMID 16473305 2006 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

PMID 19914908 2010 Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

PMID 10814718 2000 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

PMID 23696494 2013 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.