Variant information


Systematic Name c.439G>A
Protein name p.Asp147Asn
Mutation type missense
Domain MBD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result in daughter with RTT who has another mutation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.439G>A p.Asp147Asn missense MBD Polymorphism not causing disease Female Not Rett synd. 4044 Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251