Variant information



Systematic Name c.517C>G
Protein name p.Pro173Ala
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.517C>G p.Pro173Ala Missense Inter-domain region Unknown Unknown Rett syndrome-Not certain 1370