Variant information
Systematic Name (NM_004992.3:) |
c.-146_-138del9 |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.15_23del9 |
Alternate Protein name (NP_001104262) |
p.(Ala6_Ala8del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363100_153363108del9 |
Mutation type | in-frame insertion or deletion |
Domain | exon 1 |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-146_-138del9 | p.(=) | Female | Not Rett synd. | 6627 | ::: | View details |
2 | c.-146_-138del9 | p.(=) | Female | Rett syndrome-classical | 6626 | ::: | View details |