Variant information


Systematic Name c.1030C>T
Protein name p.Arg344Trp
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Not known
Detection Not known
Extent Not known
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Unaffected mother is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1030C>T p.Arg344Trp Missense C-term Unknown Male Rett syndrome-Not certain 1532 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
2 c.1030C>T p.Arg344Trp Missense C-term Unknown Female Not Rett synd. 1533 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
3 c.1030C>T p.Arg344Trp missense C-term Unknown Female Rett syndrome-atypical 4891 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