Variant information



Systematic Name c.1163_1201del39
Protein name p.Pro388_Ser401delinsArg
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1163_1201del39 p.Pro388_Ser401delinsArg in-frame insertion or deletion C-term Unknown Female Not Rett synd. 4108