Variant information



Systematic Name c.1132G>T
Protein name p.Ala378Ser
Mutation type 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.1132G>T p.Ala378Ser missense C-term Unknown Female Not Rett synd. 6581
2 c.1132G>T p.Ala378Ser missense C-term Unknown Male Not Rett synd. 6580