Proband information


Proband id 4933
Systematic Name
(NM_004992.3:)		 c.[584_624del41insTT; 638delTinsCA]
Protein name
(NP_004983)		 p.[Gly195_Gln208delinsVal; Leu213Profs*23]
Alternate systematic Name
(NM_001110792.1:)		 c.[620_660delinsTT;674delinsCA]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296655_153296695delinsAA;153296641delinsTG]
Mutation type frameshift combined insertion and deletion
Domain inter-domain region, TRD
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 Y
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.[584_624del41insTT; 638delTinsCA] p.[Gly195_Gln208delinsVal; Leu213Profs*23] Female Rett syndrome-classical 4933 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