Variant information


Systematic Name MECP2_e1: c.15_23del9
Protein name MeCP2_e1: p.A6_A8del
Mutation type in-frame insertion or deletion
Domain exon 1
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result in daughter with classic RTT
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Female Not Rett synd. 6627 :::
2 MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Female Rett syndrome-classical 6626 :::