Proband information


Proband id 4878
Systematic Name
(NM_004992.3:)		 c.867_1223delinsA
Protein name
(NP_004983)		 p.Ser291Glnfs*26
Alternate systematic Name
(NM_001110792.1:)		 c.903_1259delinsA
Alternate Protein name
(NP_001104262)		 p.(Ser303Glnfs*26)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296056_153296412delinsT
Mutation type frameshift combined insertion and deletion
Domain TRD, 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.867_1223delinsA p.Ser291Glnfs*26 Female Rett syndrome-classical 4878 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