Variant information



Systematic Name c.1163C>T
Protein name p.Pro388Leu
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.1163C>T p.Pro388Leu Missense C-term Unknown Female Rett syndrome-Forme fruste 2476
2 c.1163C>T p.Pro388Leu missense C-term Unknown Female Rett syndrome-classical 4100
3 c.1163C>T p.Pro388Leu missense C-term Unknown Female Not Rett synd. 4101