Proband id |
384 |
Systematic Name (NM_004992.3:) |
c.[1157_1197del41; 1232_1240del9] |
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.[1193_1233del41;1268_1276del9] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296082_153296122del41;153296039_153296047del9] |
Mutation type |
Frameshift insertion or deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
80 chromosomes tested and not found in 80 chromosomes |
Detection |
direct |
Extent |
Exons 2-4 |
Source of DNA |
blood |
Carrier |
N |
Carrier result |
|
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Sporadic |
Phenotype-class |
Rett syndrome-Classical |
Reference |
::: |