Variant information



Systematic Name c.299T>G
Protein name p.Leu100Arg
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.299T>G p.Leu100Arg Missense MBD Unknown Female Rett syndrome-classical 1932