Variant information



Systematic Name c.467A>G
Protein name p.Asp156Gly
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.467A>G p.Asp156Gly Missense MBD Unknown Female Rett syndrome-Not certain 266
2 c.467A>G p.Asp156Gly Missense MBD Unknown Unknown Rett syndrome-Not certain 1292