Proband information


Proband id 6862
Systematic Name
(NM_004992.3:)		 c.996C>T
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.1032C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296283G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
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.996C>T p.Ser332Ser Unknown Not Rett synd. 4614 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
2 c.996C>T p.Ser332Ser Female de novo Rett syndrome-atypical 4804 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684
3 c.996C>T p.(=) Female mother - heterozygous, father - negative Not Rett synd. 6862 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