Proband id |
6613 |
Systematic Name (NM_004992.3:) |
c.[401C>G; 1168_1173del6] |
Protein name (NP_004983) |
p.[Ser134Cys; Pro390_Pro391del] |
Alternate systematic Name (NM_001110792.1:) |
c.[437C>G;1204_1209del6] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296878G>C;153296106_153296111del6] |
Mutation type |
missense, in-frame insertion or deletion |
Domain |
MBD, C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
all exons |
Source of DNA |
Blood |
Carrier |
Y |
Carrier result |
S134C de novo, father has 1165-1170del6 |
Other mutations |
Y |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
sporadic |
Phenotype-class |
Rett syndrome-classical |
Reference |
::: |