Proband information


Proband id 4334
Systematic Name
(NM_004992.3:)		 c.[377+28A>G(;)1014C>T]
Protein name
(NP_004983)		 "intronic variation, p.Thr338Thr"
Alternate systematic Name
(NM_001110792.1:)		 c.[413+28A>G;1050C>T]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297630T>C;153296265G>A]
Mutation type intronic variation, silent
Domain intronic, C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
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-Classical
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.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" Female absent in mother Rett syndrome-Classical 4334 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