Proband id |
449 |
Systematic Name (NM_004992.3:) |
c.*8C>T |
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*8C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295810G>A |
Mutation type |
3'UTR variation |
Domain |
3'UTR |
Pathogenicity |
Polymorphism not causing disease |
Evidence of Pathogenicity |
80 chromosomes tested and not found in 80 chromosomes |
Detection |
direct |
Extent |
Part of exon 3, and parts of exon 4 |
Source of DNA |
blood |
Carrier |
NA |
Carrier result |
Relative of proband |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Sporadic |
Phenotype-class |
Not Rett synd.-Unaffected family member |
Reference |
::: |