Variant information



Systematic Name c.1043_1173del131insTG
Protein name p.Glu348_Pro391delinsVal
Mutation type In-frame combined insertion and 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.1043_1173del131insTG p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Female Rett syndrome-Not certain 1381