Proband id |
1856 |
Systematic Name (NM_004992.3:) |
c.1161_1205del45insA |
Protein name (NP_004983) |
p.Pro389* |
Alternate systematic Name (NM_001110792.1:) |
c.1197_1241delinsA |
Alternate Protein name (NP_001104262) |
p.(Pro401*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296074_153296118delinsT |
Mutation type |
Frameshift combined insertion and deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
DHPLC |
Extent |
Exons 2-4 |
Source of DNA |
Blood |
Carrier |
Y |
Carrier result |
Neither parent has variation |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Rett syndrome-Not certain |
Reference |
:Bunyan, D.:: |