Proband id |
5110 |
Systematic Name (NM_004992.3:) |
c.1180_1181insT |
Protein name (NP_004983) |
p.Glu394Valfs*11 |
Alternate systematic Name (NM_001110792.1:) |
c.1216_1217insT |
Alternate Protein name (NP_001104262) |
p.(Glu406Valfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296098_153296099insA |
Mutation type |
frameshift insertion or deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
exons 1 to 4 |
Source of DNA |
blood |
Carrier |
NC |
Carrier result |
|
Other mutations |
NK |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
|
Phenotype-class |
Rett syndrome-classical |
Reference |
::: |