Variant information



Systematic Name p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]
Protein name p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=]
Mutation type intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion
Domain intronic, C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease Female Rett syndrome-Classical 4335