Variant information


Systematic Name
(NM_004992.3:)		 c.1163_1201del39
Protein name
(NP_004983)		 p.Pro388_Ser401delinsArg
Alternate systematic Name
(NM_001110792.1:)		 c.1199_1237del39
Alternate Protein name
(NP_001104262)		 p.(Pro400_Ser413delinsArg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296078_153296116del39
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.1163_1201del39 p.Pro388_Ser401delinsArg Female Not Rett synd. 4108 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details