Proband information


Proband id 2867
Systematic Name
(NM_004992.3:)		 c.383A>C
Protein name
(NP_004983)		 p.Gln128Pro
Alternate systematic Name
(NM_001110792.1:)		 c.419A>C
Alternate Protein name
(NP_001104262)		 p.(Gln140Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296896T>G
Mutation type missense
Domain MBD
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-late regression
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.383A>C p.Gln128Pro Female Rett syndrome-late regression 2867 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