Variant information


Systematic Name
(NM_004992.3:)		 c.[=/398G>A]
Protein name
(NP_004983)		 p.[=/Arg133His]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[=/398G>A] p.[=/Arg133His] Male Rett syndrome-Male variant 1182 Classic Rett syndrome in a boy as a result of somatic mosaicism for a MeCP2 mutation:Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia:Annals of Neurology: 11706982 View details