Variant information



Systematic Name c.674C>T
Protein name p.Pro225Leu
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.674C>T p.Pro225Leu Missense TRD Unknown Male Rett syndrome-Male variant 1659
2 c.674C>T p.Pro225Leu Missense TRD Unknown Female Rett syndrome-Classical 2429