Variant information



Systematic Name c.904C>G
Protein name p.Pro302Ala
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.904C>G p.Pro302Ala Missense TRD Unknown Female Rett syndrome-Preserved speech 120
2 c.904C>G p.Pro302Ala Missense TRD Unknown Female Rett syndrome-Classical 318
3 c.904C>G p.Pro302Ala missense TRD Unknown Female Rett syndrome-not certain 3080
4 c.904C>G p.Pro302Ala missense TRD Unknown Female Rett syndrome-not certain 3140