Variant information



Systematic Name c.1161_1400del240
Protein name p.Pro388_Pro467del
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_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Female Not Rett synd. 837
2 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 836
3 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Female Not Rett synd. 835
4 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 834
5 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 833