Variant information



Systematic Name c.(378_1461)_(378_1461)del
Protein name p.(Asn126+Ser486)fs
Mutation type Frameshift insertion or deletion
Domain Not known
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_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Classical 2083
2 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Classical 2084
3 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Atypical 2085
4 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Classical 2086
5 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Not certain 2087
6 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Atypical 2499