Variant information


Systematic Name c.1061_1156del96
Protein name p.Arg352_Pro385del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection SSCP
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result unaffected mother is not carrier, unaffected father is not carrier, unborn brother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference Prenatal diagnosis in Rett syndrome:Armstrong, J., Aibar, E., Pineda, M., Pérez, M.M., Geán, E., Carrera, M., Casas, C., Martínez, F., Monrós, E.:Fetal Diagnosis and Therapy: 12065946

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1061_1156del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Classical 1196 Prenatal diagnosis in Rett syndrome:Armstrong, J., Aibar, E., Pineda, M., Pérez, M.M., Geán, E., Carrera, M., Casas, C., Martínez, F., Monrós, E.:Fetal Diagnosis and Therapy: 12065946