Variant information


Systematic Name c.[502C>T;1180G>A];[832G>A]
Protein name p.[Arg168*];[Ala278Thr]
Mutation type nonsense, missense
Domain inter-domain region, TRD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent not stated
Number of chromosomes checked
Carrier status checked Yes
Carrier result father hemizygous for p.E394K, mother carrier of p.A278T, p.R168X de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] nonsense, missense inter-domain region, TRD, C-term Mutation associated with disease Female Rett syndrome-not certain 5235 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494