Proband id |
1722 |
Systematic Name (NM_004992.3:) |
c.807_*125del780 |
Protein name (NP_004983) |
p.Arg270_Ser486delinsGln |
Alternate systematic Name (NM_001110792.1:) |
c.843_*125del780 |
Alternate Protein name (NP_001104262) |
p.(Arg282_Ser498delinsGln) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295693_153296472del780 |
Mutation type |
In-frame insertion or deletion |
Domain |
TRD-NLS |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
Exons 2-4 |
Source of DNA |
blood |
Carrier |
NC |
Carrier result |
|
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Not Known |
Reference |
:Friez, Michael:: |