Proband information
Proband id |
6616 |
Systematic Name (NM_004992.3:) |
c.961A>G |
Protein name (NP_004983) |
p.Lys321Glu |
Alternate systematic Name (NM_001110792.1:) |
c.997A>G |
Alternate Protein name (NP_001104262) |
p.(Lys333Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296318T>C |
Mutation type |
missense |
Domain |
C-term |
Pathogenicity |
Unknown |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
all exons |
Source of DNA |
Blood |
Carrier |
Y |
Carrier result |
de novo |
Other mutations |
|
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
::: |
Matching entries in the proband database
No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.961A>G |
p.Lys321Glu |
Female |
de novo |
Rett syndrome-classical |
6616 |
::: |