Proband information
Proband id | 4336 |
---|---|
Systematic Name (NM_004992.3:) |
c.[378-74C>T(;)473C>T] |
Protein name (NP_004983) |
"intronic variation, p.Thr158Met" |
Alternate systematic Name (NM_001110792.1:) |
c.[414-74C>T;509C>T] |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296975G>A;153296806G>A] |
Mutation type | intronic variation, missense |
Domain | intronic, MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | absent in mother |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Atypical |
Reference | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[378-74C>T(;)473C>T] | "intronic variation, p.Thr158Met" | Female | absent in mother | Rett syndrome-Atypical | 4336 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |