Variant information


Systematic Name c.1156_1200del45
Protein name p.Leu386_Thr400del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Neither parent is carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1156_1200del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Not certain 286 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679