Variant information



Systematic Name c.1327G>A
Protein name p.Ala443Thr
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.1327G>A p.Ala443Thr missense C-term Unknown Male Not Rett synd. 4897
2 c.1327G>A p.Ala443Thr missense C-term Unknown Female Not Rett synd. 4898