Variant information



Systematic Name c.[502C>T];[695G>C]
Protein name p.[Arg168*];[Gly232Ala]
Mutation type Nonsense, missense
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Unknown Rett syndrome-Not certain 129
2 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Unknown Rett syndrome-Not certain 132
3 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Unknown Rett syndrome-Not certain 134