Variant information



Systematic Name c.378-?_*?del
Protein name p.Asn126fs
Mutation type exon deletion
Domain MBD
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.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-Not certain 1864
2 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-Not certain 1917
3 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3325
4 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3326
5 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3327
6 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3328
7 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3329
8 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3330
9 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3351
10 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3352
11 c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-classical 3781