Proband information


Proband id 3810
Systematic Name
(NM_004992.3:)		 c.1072G>A
Protein name
(NP_004983)		 p.Ala358Thr
Alternate systematic Name
(NM_001110792.1:)		 c.1108G>A
Alternate Protein name
(NP_001104262)		 p.(Ala370Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296207C>T
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 3 and 4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-epileptic encephalopathy
Reference Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1072G>A p.Ala358Thr Female maternal Rett syndrome-not certain 3566 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
2 c.1072G>A p.Ala358Thr Male Not Rett synd. 3810 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559
3 c.1072G>A p.Ala358Thr Female in daughter with Rett syndrome Not Rett synd. 3989 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
4 c.1072G>A p.Ala358Thr Female in unaffected father Not Rett synd. 4892 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
5 c.1072G>A p.Ala358Thr Male in daughter with mental retardation Not Rett synd. 4893 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191