Variant information



Systematic Name c.1214C>T
Protein name p.Pro405Leu
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.1214C>T p.Pro405Leu missense C-term Unknown Male Not Rett synd. 2763
2 c.1214C>T p.Pro405Leu missense C-term Unknown Male Not Rett synd. 3851
3 c.1214C>T p.Pro405Leu missense C-term Unknown Female Not Rett synd. 3933
4 c.1214C>T p.Pro405Leu missense C-term Unknown Female Not Rett synd. 3934