Variant information


Systematic Name
(NM_004992.3:)		 c.378-65C>G
Protein name
(NP_004983)
Alternate systematic Name
(NM_001110792.1:)		 c.414-65C>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296966G>C
Mutation type intronic
Domain intronic
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-65C>G Female Not Rett synd. 6849 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