Variant information



Systematic Name c.[380C>T];[380C>T]
Protein name p.[Pro127Leu];[Pro127Leu]
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] missense MBD Unknown Female Rett syndrome-not certain 3527