Variant information



Systematic Name c.398G>A
Protein name p.Arg133His
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.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Not certain 29
2 c.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Atypical 433
3 c.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Classical 2226
4 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3111
5 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3432
6 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3536
7 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3537
8 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-atypical 5112