Variant information



Systematic Name c.1160C>T
Protein name p.Pro387Leu
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.1160C>T p.Pro387Leu Missense C-term Unknown Male Not Rett synd. 1022