Proband information


Proband id 4879
Systematic Name
(NM_004992.3:)
c.871_1044del
Protein name
(NP_004983)
p.Ile293_Ser350del
Alternate systematic Name
(NM_001110792.1:)
c.907_1080del
Alternate Protein name
(NP_001104262)
p.(Ile305_Ser362del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296235_153296408del
Mutation type in-frame insertion or 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-atypical
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.871_1044del p.Ile293_Ser350del Female Rett syndrome-atypical 4879 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