Proband information


Proband id 2882
Systematic Name
(NM_004992.3:)		 c.830delC
Protein name
(NP_004983)		 p.Ala277fs
Alternate systematic Name
(NM_001110792.1:)		 c.866delC
Alternate Protein name
(NP_001104262)		 p.(Ala289Glufs*12)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296449delG
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent exons 3 and 4
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.830delC p.Ala277fs Female Rett syndrome-classical 2882 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523