Variant information

Systematic Name
c.[528C>G; 897C>T]
Protein name
p.[Pro176Pro; Thr299Thr]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[528C>G; 897C>T] p.[Pro176Pro; Thr299Thr] Male Not Rett synd. 3021 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 View details