Variant information



Systematic Name c.925C>T
Protein name p.Arg309Trp
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.925C>T p.Arg309Trp missense TRD Unknown Male Not Rett synd. 3909
2 c.925C>T p.Arg309Trp missense TRD Unknown Female Not Rett synd. 4618
3 c.925C>T p.Arg309Trp missense TRD Unknown Male Not Rett synd. 4748
4 c.925C>T p.Arg309Trp missense TRD Unknown Female Not Rett synd. 5132
5 c.925C>T p.Arg309Trp missense TRD Unknown Female Rett syndrome-atypical 5325