Proband id |
7042 |
Systematic Name (NM_004992.3:) |
c.1004_1173delinsCTGTGTAA |
Protein name (NP_004983) |
p.Gly335_Ser486delinsAlaVal |
Alternate systematic Name (NM_001110792.1:) |
c.1040_1209delinsCTGTGTAA |
Alternate Protein name (NP_001104262) |
p.(Gly347_Ser498delinsAlaVal) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
NC_000023.10:g.153296106_153296275delins[NC_000008.10:50305003_50392184inv;TTACACAG] |
Mutation type |
frameshift combined insertion and deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
WGS |
Extent |
|
Source of DNA |
|
Carrier |
Y |
Carrier result |
de novo mutation, parents are not carriers |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
|
Phenotype-class |
Rett syndrome-classical |
Reference |
:Beskorovainaya,Tatiana -Moscow :: |