Variant information



Systematic Name c.1138G>A
Protein name p.Val380Met
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.1138G>A p.Val380Met missense C-term Unknown Female Not Rett synd. 4092