Variant information



Systematic Name c.[=/398G>A]
Protein name p.[=/Arg133His]
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>A] p.[=/Arg133His] Missense MBD Unknown Male Rett syndrome-Male variant 1182