Proband information


Proband id 4338
Systematic Name
(NM_004992.3:)		 c.[426C>T(;)608C>T]
Protein name
(NP_004983)		 p.[Phe142Phe(;)Thr203Met]
Alternate systematic Name
(NM_001110792.1:)		 c.[462C>T;644C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296853G>A;153296671G>A]
Mutation type silent, missense
Domain MBD, inter-domain region
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result absent in mother
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Atypical
Reference Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[426C>T(;)608C>T] p.[Phe142Phe(;)Thr203Met] Female absent in mother Rett syndrome-Atypical 4338 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356