Variant information
Systematic Name (NM_004992.3:) |
c.119_120delAG |
---|---|
Protein name (NP_004983) |
p.Glu40fs |
Alternate systematic Name (NM_001110792.1:) |
c.155_156delAG |
Alternate Protein name (NP_001104262) |
p.(Glu52Glyfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297915_153297916delCT |
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 |