Variant information



Systematic Name c.403A>G
Protein name p.Lys135Glu
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.403A>G p.Lys135Glu Missense MBD Unknown Unknown Rett syndrome-Not certain 1286
2 c.403A>G p.Lys135Glu Missense MBD Unknown Unknown Rett syndrome-Not certain 1287
3 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-Classical 2578
4 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-classical 2934
5 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-not certain 3112
6 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-not certain 3433
7 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-classical 4096
8 c.403A>G p.Lys135Glu missense MBD Unknown Female Rett syndrome-preserved speech 6618