Variant information



Systematic Name c.341G>C
Protein name p.Gly114Ala
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.341G>C p.Gly114Ala Missense MBD Unknown Female Rett syndrome-Not certain 1884