Proband information


Proband id 4866
Systematic Name
(NM_004992.3:)		 c.409_1158del
Protein name
(NP_004983)		 p.Glu137_Leu386del
Alternate systematic Name
(NM_001110792.1:)		 c.445_1194del
Alternate Protein name
(NP_001104262)		 p.(Glu149_Leu398del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296121_153296870del
Mutation type in-frame insertion or deletion
Domain MBD, inter-domain region, TRD, TRD-NLS, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.409_1158del p.Glu137_Leu386del Female Rett syndrome-classical 4866 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191