Proband id |
3910 |
Systematic Name (NM_004992.3:) |
c.[455C>G(;)683C>G] |
Protein name (NP_004983) |
p.[Pro152Arg(;)Thr228Ser] |
Alternate systematic Name (NM_001110792.1:) |
c.[491C>G;719C>G] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296824G>C;153296596G>C] |
Mutation type |
missense |
Domain |
MBD, TRD |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
50 chromosomes tested and not found in 50 chromosomes |
Detection |
SSCP |
Extent |
90% coding region |
Source of DNA |
blood |
Carrier |
NC |
Carrier result |
|
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
:Khajuria, R.:: |