Proband information


Proband id 6864
Systematic Name
(NM_004992.3:)
c.1133C>G
Protein name
(NP_004983)
Alternate systematic Name
(NM_001110792.1:)
c.1169C>G
Alternate Protein name
(NP_001104262)
p.(Ala390Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296146G>C
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 200 chromosomes tested and not found in 0 chromosomes
Detection HRM, sequencing
Extent
Source of DNA blood
Carrier
Carrier result mother - heterozygous, father - negative
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Not Rett synd.-mental retardation
Reference MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1133C>G p.Ala378Gly Female Rett syndrome-classical 4099 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
2 c.1133C>G Female mother - heterozygous, father - negative Not Rett synd. 6864 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561