Proband id |
6909 |
Systematic Name (NM_004992.3:) |
c.1316C>T |
Protein name (NP_004983) |
p.Ala439Val |
Alternate systematic Name (NM_001110792.1:) |
c.1352C>T |
Alternate Protein name (NP_001104262) |
p.(Ala451Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295963G>A |
Mutation type |
missense |
Domain |
C-term |
Pathogenicity |
Polymorphism not causing disease |
Evidence of Pathogenicity |
|
Detection |
MPS |
Extent |
|
Source of DNA |
blood |
Carrier |
Y |
Carrier result |
Asymptomatic mother carrier |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
|
Phenotype-class |
Not Rett synd.-unaffected family member |
Reference |
::: |