Variant information


Systematic Name
(NM_004992.3:)
c.[455C>G(;)582C>T]
Protein name
(NP_004983)
p.[Pro152Arg(;)Ser194Ser]
Alternate systematic Name
(NM_001110792.1:)
c.[491C>G;618C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296824G>C;153296697G>A]
Mutation type missense, silent
Domain MBD, inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[455C>G(;)582C>T] p.[Pro152Arg(;)Ser194Ser] Female Rett syndrome-Atypical 4339 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