Variant information


Systematic Name
(NM_004992.3:)		 c.[377+28A>G(;)1014C>T]
Protein name
(NP_004983)		 "intronic variation, p.Thr338Thr"
Alternate systematic Name
(NM_001110792.1:)		 c.[413+28A>G;1050C>T]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297630T>C;153296265G>A]
Mutation type intronic variation, silent
Domain intronic, C-term
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" Female Rett syndrome-Classical 4334 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details