Variant information



Systematic Name c.900_908del
Protein name p.Leu301_Ile303del
Mutation type in-frame insertion or deletion
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.900_908del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Female Rett syndrome-forme fruste 4386