Proband information


Proband id 4061
Systematic Name
(NM_004992.3:)		 c.1438C>T
Protein name
(NP_004983)		 p.Pro480Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1474C>T
Alternate Protein name
(NP_001104262)		 p.(Pro492Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295841G>A
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 150 chromosomes tested and not found in 150 chromosomes
Detection direct
Extent exons 2-4
Source of DNA NK
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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.1438C>T p.Pro480Ser Male found in healthy brother and mother carrier Not Rett synd. 3034 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
2 c.1438C>T p.Pro480Ser Male Not Rett synd. 4060 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
3 c.1438C>T p.Pro480Ser Female Not Rett synd. 4061 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