Proband information



Proband id 4967
Systematic Name c.1233_1243del11
Protein name p.Ser411fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent MECP2, ARX
Source of DNA not stated
Carrier Y
Carrier result in brother with x-linked mental retardation or autism spectrum disorder
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-learning disability
Reference Adult phenotypes in Angelman- and Rett-like syndromes:Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.:Mol Syndromol: 22670143

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Male Not Rett synd. 4966 Adult phenotypes in Angelman- and Rett-like syndromes:Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.:Mol Syndromol: 22670143
2 c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Female Not Rett synd. 4967 Adult phenotypes in Angelman- and Rett-like syndromes:Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.:Mol Syndromol: 22670143