Variant information



Systematic Name c.378-14G>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.378-14G>A intronic variation intronic variation intronic Unknown Female Rett syndrome-Classical 4351