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 |