Variant information



Systematic Name c.1250A>T
Protein name p.Lys417Met
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.1250A>T p.Lys417Met missense C-term Unknown Male Not Rett synd. 2796
2 c.1250A>T p.Lys417Met missense C-term Unknown Female Not Rett synd. 4675
3 c.1250A>T p.Lys417Met missense C-term Unknown Male Not Rett synd. 6619