Variant information


Systematic Name c.119_120delAG
Protein name p.Glu40fs
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Yes
Carrier result mother normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-neonatal encephalopathy
Reference A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism:Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.:J Pediatr: 19559301

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3596 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
2 c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Male Not Rett synd. 3869 A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism:Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.:J Pediatr: 19559301