Variant information



Systematic Name c.910A>G
Protein name p.Lys304Glu
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.910A>G p.Lys304Glu Missense TRD Unknown Female Not Known 2015
2 c.910A>G p.Lys304Glu missense TRD Unknown Female Rett syndrome-not certain 3142