Variant information



Systematic Name not certain
Protein name p.Leu386fs
Mutation type Not known
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 not certain p.Leu386fs Not known C-term Mutation associated with disease Female Rett syndrome-Classical 325
2 not certain p.Leu386fs Not known C-term Mutation associated with disease Female Rett syndrome-Classical 326
3 not certain p.Leu386fs Not known C-term Mutation associated with disease Female Rett syndrome-Classical 327
4 not certain p.Leu386fs Not known C-term Mutation associated with disease Female Rett syndrome-Classical 328
5 not certain p.Phe157Leu missense MBD Unknown Female Rett syndrome-Classical 4244
6 not certain p.Phe157Leu missense MBD Unknown Female Rett syndrome-not certain 4905