Variant information


Systematic Name c.383A>C
Protein name p.Gln128Pro
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA not known
Detection DHPLC
Extent exons 3 and 4
Number of chromosomes checked
Carrier status checked 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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.383A>C p.Gln128Pro missense MBD Unknown 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