Variant information


Systematic Name c.1155_1200del46
Protein name p.Leu386fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Not Known
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1155_1200del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 429 :::
2 c.1155_1200del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2021 :::
3 c.1155_1200del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3293 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305