Proband information


Proband id 4339
Systematic Name
(NM_004992.3:)		 c.[455C>G(;)582C>T]
Protein name
(NP_004983)		 p.[Pro152Arg(;)Ser194Ser]
Alternate systematic Name
(NM_001110792.1:)		 c.[491C>G;618C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296824G>C;153296697G>A]
Mutation type missense, silent
Domain MBD, inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result p.P152R absent in mother, p.S194S mother carrier
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.[455C>G(;)582C>T] p.[Pro152Arg(;)Ser194Ser] Female p.P152R absent in mother, p.S194S mother carrier Rett syndrome-Atypical 4339 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