Variant information



Systematic Name c.[1155_1172del18; 1373G>A]
Protein name p.[Leu386_Pro391del; Arg458His]
Mutation type in-frame insertion or deletion, missense
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.[1155_1172del18; 1373G>A] p.[Leu386_Pro391del; Arg458His] in-frame insertion or deletion, missense c-term Unknown Female Rett syndrome-not certain 3874