Proband information


Proband id 1182
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
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
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 Gender Carrier result Phenotype Proband id Reference
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