Variant information



Systematic Name c.914A>G
Protein name p.Lys305Arg
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.914A>G p.Lys305Arg Missense TRD Unknown Female Rett syndrome-Not certain 30
2 c.914A>G p.Lys305Arg Missense TRD Unknown Female Rett syndrome-Not certain 1142
3 c.914A>G p.Lys305Arg Missense TRD Unknown Female Rett syndrome-Classical 2408
4 c.914A>G p.Lys305Arg missense TRD Unknown Female Rett syndrome-classical 3627