Proband information


Proband id 1236
Systematic Name
(NM_004992.3:)
c.[802C>T(;) 808C>T]
Protein name
(NP_004983)
p.[Arg268Trp(;) Arg270*]
Alternate systematic Name
(NM_001110792.1:)
c.[838C>T;844C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296477G>A;153296471G>A]
Mutation type Missense, nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] Female Neither parent has variation Rett syndrome-Classical 1236 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283