Variant information


Systematic Name
(NM_004992.3:)		 c.[378-74C>T(;)473C>T]
Protein name
(NP_004983)		 "intronic variation, p.Thr158Met"
Alternate systematic Name
(NM_001110792.1:)		 c.[414-74C>T;509C>T]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296975G>A;153296806G>A]
Mutation type intronic variation, missense
Domain intronic, MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" Female Rett syndrome-Atypical 4336 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