Proband id |
450 |
Systematic Name (NM_004992.3:) |
c.812_818del7 |
Protein name (NP_004983) |
p.Lys271fs |
Alternate systematic Name (NM_001110792.1:) |
c.848_854del7 |
Alternate Protein name (NP_001104262) |
p.(Lys283Argfs*16) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296461_153296467del7 |
Mutation type |
Frameshift insertion or deletion |
Domain |
TRD |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
80 chromosomes tested and not found in 0 chromosomes |
Detection |
direct |
Extent |
Exons 2-4 |
Source of DNA |
blood |
Carrier |
Y |
Carrier result |
Mother not thought to be carrier |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Sporadic |
Phenotype-class |
Rett syndrome-Classical |
Reference |
::: |