Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.119_120delAG p.Glu40fs 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 View details
2 c.119_120delAG p.Glu40fs 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 View details