Proband id |
2117 |
Systematic Name (NM_004992.3:) |
c.1223_1265del43 |
Protein name (NP_004983) |
p.Leu408fs |
Alternate systematic Name (NM_001110792.1:) |
c.1259_1301del43 |
Alternate Protein name (NP_001104262) |
p.(Leu420Serfs*60) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296014_153296056del43 |
Mutation type |
Frameshift insertion or deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
Not known |
Extent |
Exons 2-4 (at least) |
Source of DNA |
Blood or skin |
Carrier |
NC |
Carrier result |
|
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Rett syndrome-Atypical |
Reference |
:Cardiff, UK:: |