Variant information



Systematic Name c.1358G>A
Protein name
Mutation type missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1358G>A p.Arg453Gln Missense C-term Unknown Male Not Rett synd. 1017
2 c.1358G>A missense C-term Unknown Female Not Known 6904