Proband information


Proband id 4966
Systematic Name
(NM_004992.3:)		 c.1233_1243del11
Protein name
(NP_004983)		 p.Ser411fs
Alternate systematic Name
(NM_001110792.1:)		 c.1269_1279del11
Alternate Protein name
(NP_001104262)		 p.(Ser423Argfs*21)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296036_153296046del11
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 sister with learning disability, mother with learning disability not screened
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-
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 Gender Carrier result Phenotype Proband id Reference
1 c.1233_1243del11 p.Ser411fs Male in sister with learning disability, mother with learning disability not screened 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 Female in brother with x-linked mental retardation or autism spectrum disorder 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