Proband information


Proband id 1235
Systematic Name
(NM_004992.3:)		 c.[763C>T(;)1449G>C]
Protein name
(NP_004983)		 p.[Arg255*(;)Glu483Asp]
Alternate systematic Name
(NM_001110792.1:)		 c.[799C>T;1485G>C]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296516G>A;153295830C>G]
Mutation type Nonsense
Domain TRD, C-term
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.[763C>T(;)1449G>C] p.[Arg255*(;)Glu483Asp] Female Neither parent has variation Rett syndrome-Classical 1235 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