Variant information



Systematic Name c.398G>T
Protein name p.Arg133Leu
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.398G>T p.Arg133Leu Missense MBD Unknown Female Rett syndrome-Classical 329