Variant information



Systematic Name c.-168-?_26+?del
Protein name p.Met1?
Mutation type exon deletions
Domain N-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1820
2 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1865
3 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2073
4 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Atypical 2075
5 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2076
6 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2498
7 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2534
8 c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2760
9 c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2761
10 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2783
11 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3611
12 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3769
13 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3770
14 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3771