Variant information



Systematic Name c.377+24C>A
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.377+24C>A intronic variation intronic variation intronic Unknown Male Not Rett synd. 2745
2 c.377+24C>A intronic variation intronic variation intronic Unknown Female Not Rett synd. 3935
3 c.377+24C>A intronic variation intronic variation intronic Unknown Female Not Rett synd. 3936