Variant information


Systematic Name c.[=/398G>A]
Protein name p.[=/Arg133His]
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Rett syndrome-Male variant
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown 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