Proband id |
6346 |
Systematic Name (NM_004992.3:) |
c.[964C>G(;)*98dupA] |
Protein name (NP_004983) |
p.Pro322Ala |
Alternate systematic Name (NM_001110792.1:) |
c.[1000C>G;*98dupA] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296315G>C;153295720dupT] |
Mutation type |
missense, 3'UTR variation |
Domain |
C-term |
Pathogenicity |
Unknown |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
all exons |
Source of DNA |
Blood |
Carrier |
Y |
Carrier result |
p.P322A de novo, *98dupA in unaffected mother |
Other mutations |
Y |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
::: |