Proband id |
4084 |
Systematic Name (NM_004992.3:) |
c.484dupA |
Protein name (NP_004983) |
p.Arg162fs |
Alternate systematic Name (NM_001110792.1:) |
c.520dupA |
Alternate Protein name (NP_001104262) |
p.(Arg174Lysfs*13) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296795dupT |
Mutation type |
frameshift insertion or deletion |
Domain |
inter-domain region |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
50 chromosomes tested and not found in 50 chromosomes |
Detection |
SSCP |
Extent |
90% coding sequence |
Source of DNA |
blood |
Carrier |
Y |
Carrier result |
de novo |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
:Khajuria, R.:: |