Variant information



Systematic Name c.898G>A
Protein name p.Val300Ile
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.898G>A p.Val300Ile Missense TRD Unknown Female Rett syndrome-Classical 1400
2 c.898G>A p.Val300Ile missense TRD Unknown Female Not Rett synd. 4880
3 c.898G>A p.Val300Ile missense TRD Unknown Female Not Rett synd. 4881