Variant information



Systematic Name c.401C>T
Protein name p.Ser134Phe
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.401C>T p.Ser134Phe Missense MBD Unknown Female Not Known 1740
2 c.401C>T p.Ser134Phe missense MBD Unknown Female Rett syndrome-classical 2986
3 c.401C>T p.Ser134Phe missense MBD Unknown Female Rett syndrome-classical 3624
4 c.401C>T p.Ser134Phe missense MBD Unknown Female Rett syndrome-not certain 4737
5 c.401C>T p.Ser134Phe missense MBD Unknown Female Rett syndrome-classical 6594