Variant information


Systematic Name
(NM_004992.3:)		 c.[1126C>T];[1126C>T]
Protein name
(NP_004983)		 p.[Pro376Ser];[Pro376Ser]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Female Not Rett synd. 1571 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 View details