Proband information
Proband id | 4341 |
---|---|
Systematic Name (NM_004992.3:) |
c.[763C>T(;)1133C>G] |
Protein name (NP_004983) |
p.[Arg255*(;)Ala378Gly] |
Alternate systematic Name (NM_001110792.1:) |
c.[799C>T;1169C>G] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296516G>A;153296146G>C] |
Mutation type | nonsense, missense |
Domain | TRD, C-term |
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 | Y |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Classical |
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.[763C>T(;)1133C>G] | p.[Arg255*(;)Ala378Gly] | Female | absent in mother | Rett syndrome-Classical | 4341 | 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 |