Variant information



Systematic Name c.472A>G
Protein name p.Thr158Ala
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.472A>G p.Thr158Ala Missense MBD Unknown Female Rett syndrome-Preserved speech 1463
2 c.472A>G p.Thr158Ala Missense MBD Unknown Female Rett syndrome-classical 1939