Variant information


Systematic Name
(NM_004992.3:)		 c.1061_1156del96
Protein name
(NP_004983)		 p.Arg352_Pro385del
Alternate systematic Name
(NM_001110792.1:)		 c.1097_1192del96
Alternate Protein name
(NP_001104262)		 p.(Arg366_Pro397del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296123_153296218del96
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1061_1156del96 p.Arg352_Pro385del 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 View details