Proband information


Proband id 2883
Systematic Name
(NM_004992.3:)		 c.1164_1208del45
Protein name
(NP_004983)		 p.Pro389_Pro403del
Alternate systematic Name
(NM_001110792.1:)		 c.1200_1244del45
Alternate Protein name
(NP_001104262)		 p.(Pro401_Pro415del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296071_153296115del45
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
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-congenital onset
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.1164_1208del45 p.Pro389_Pro403del Unknown Rett syndrome-Not certain 1361 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
2 c.1164_1208del45 p.Pro389_Pro403del Female Rett syndrome-congenital onset 2883 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