Variant information



Systematic Name c.331A>G
Protein name p.Arg111Gly
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.331A>G p.Arg111Gly Missense MBD Unknown Unknown Rett syndrome-Not certain 1279