Variant information



Systematic Name c.1151C>T
Protein name p.Pro384Leu
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.1151C>T p.Pro384Leu missense C-term Unknown Female Not Rett synd. 4894
2 c.1151C>T p.Pro384Leu missense C-term Unknown Female Not Rett synd. 4895
3 c.1151C>T p.Pro384Leu missense C-term Unknown Female Not Rett synd. 4896