Variant information


Systematic Name c.[378-109A>G;518C>G]
Protein name p.Pro173Arg
Mutation type intronic variation, missense
Domain intronic, inter-domain region
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent not stated
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
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.[378-109A>G;518C>G] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Female Not Rett synd. 5239 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