Proband information


Proband id 3021
Systematic Name
(NM_004992.3:)		 c.[528C>G; 897C>T]
Protein name
(NP_004983)		 p.[Pro176Pro; Thr299Thr]
Alternate systematic Name
(NM_001110792.1:)		 c.[564C>G;933C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296751G>C;153296382G>A]
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-mental retardation
Reference Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[528C>G; 897C>T] p.[Pro176Pro; Thr299Thr] Male Not Rett synd. 3021 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644