Variant information



Systematic Name c.1153_1188del36
Protein name p.Pro385_Ser396del
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.1153_1188del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 4916