Proband information


Proband id 4934
Systematic Name
(NM_004992.3:)		 c.27-?_*?del (deletion of exons 3 and 4)
Protein name
(NP_004983)		 p.Arg9?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type exonic deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
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.27-?_*?del (deletion of exons 3 and 4) p.Arg9? Female Rett syndrome-classical 4934 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
2 c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? Female Rett syndrome-classical 4935 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