Variant information



Systematic Name c.422A>G
Protein name p.Tyr141Cys
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.422A>G p.Tyr141Cys Missense MBD Unknown Female Rett syndrome-Atypical 2519
2 c.422A>G p.Tyr141Cys missense MBD Unknown Female Rett syndrome-atypical 2956
3 c.422A>G p.Tyr141Cys missense MBD Unknown Female Rett syndrome-not certain 3113
4 c.422A>G p.Tyr141Cys missense MBD Unknown Female Rett syndrome-not certain 3114
5 c.422A>G p.Tyr141Cys missense MBD Unknown Female Rett syndrome-not certain 3115