Variant information



Systematic Name c.542C>T
Protein name p.Ala181Val
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.542C>T p.Ala181Val Missense Inter-domain region Unknown Male Not Rett synd. 1564
2 c.542C>T p.Ala181Val Missense Inter-domain region Unknown Female Not Rett synd. 1565