Proband information
Proband id | 4932 |
---|---|
Systematic Name (NM_004992.3:) |
c.318_321dup |
Protein name (NP_004983) |
p.Leu108fs |
Alternate systematic Name (NM_001110792.1:) |
c.354_357dup |
Alternate Protein name (NP_001104262) |
p.(Leu120Glufs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297714_153297717dup |
Mutation type | frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | coding regions and intron/exon boundaries |
Source of DNA | blood |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.318_321dup | p.Leu108fs | Female | Rett syndrome-classical | 4932 | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 |