Variant information



Systematic Name c.871T>G
Protein name p.Ser291Ala
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.871T>G p.Ser291Ala Missense TRD Unknown Female Rett syndrome-Not certain 1141