Variant information


Systematic Name
(NM_004992.3:)		 c.-395G>T
Protein name
(NP_004983)
Alternate systematic Name
(NM_001110792.1:)		 c.-235G>T
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363357C>A
Mutation type Missense
Domain 5'UTR
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-395G>T Female Not Rett synd. 6839 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 View details