Variant information



Systematic Name c.289G>T
Protein name p.Asp97Tyr
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.289G>T p.Asp97Tyr Missense MBD Unknown Female Rett syndrome-Not certain 28
2 c.289G>T p.Asp97Tyr Missense MBD Unknown Female Rett syndrome-Classical 1221
3 c.289G>T p.Asp97Tyr missense MBD Unknown Female Rett syndrome-not certain 2646
4 c.289G>T p.Asp97Tyr missense MBD Unknown Female Rett syndrome-Classical 4346