Variant information


Systematic Name c.1072G>A
Protein name p.Ala358Thr
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent all exons
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result in daughter with Rett syndrome
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-unaffected family member
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Female 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 missense C-term Polymorphism not causing disease 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 missense C-term Polymorphism not causing disease Female 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 missense C-term Polymorphism not causing disease Female 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 missense C-term Polymorphism not causing disease Male 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