Variant information



Systematic Name c.1161_1166del6
Protein name p.Pro390_Pro391del
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.1161_1166del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Unknown Female Not Rett synd. 4855