Proband id |
6629 |
Systematic Name (NM_004992.3:) |
c.863_881del19 |
Protein name (NP_004983) |
p.Val288fs |
Alternate systematic Name (NM_001110792.1:) |
c.899_917del19 |
Alternate Protein name (NP_001104262) |
p.(Val300Aspfs*27) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296398_153296416del19 |
Mutation type |
frameshift insertion or deletion |
Domain |
TRD |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
all exons |
Source of DNA |
Blood |
Carrier |
N |
Carrier result |
|
Other mutations |
|
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
::: |