Proband id |
1830 |
Systematic Name (NM_004992.3:) |
c.[763C>T(;)1071C>T] |
Protein name (NP_004983) |
p.[Arg255*(;)Ser357Ser] |
Alternate systematic Name (NM_001110792.1:) |
c.[799C>T;1107C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296516G>A;153296208G>A] |
Mutation type |
Nonsense, silent |
Domain |
TRD, C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
DHPLC |
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 |
Rett syndrome-Not certain |
Reference |
:Bunyan, D.:: |