Variant information



Systematic Name c.1141C>T
Protein name p.Pro381Ser
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.1141C>T p.Pro381Ser missense C-term Unknown Female Rett syndrome-preserved speech 6615