Variant information



Systematic Name c.1162C>T
Protein name p.Pro388Ser
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.1162C>T p.Pro388Ser missense c-term Unknown Female Rett syndrome-Classical 2626
2 c.1162C>T p.Pro388Ser missense C-term Unknown Female Rett syndrome-congenital onset 2857