Proband information

Proband id 5239
Systematic Name c.[378-109A>G;518C>G]
Protein name p.Pro173Arg
Genomic name g.[153297010T>C;153296761G>C]
Mutation type intronic variation, missense
Domain intronic, inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Chromosomes tested
Chromosome abnormality NK
Chromosome abnormality description
Detection direct
Extent not stated
Source of DNA blood
Carrier status checked? N
Carrier result
Other mutations Y
X-inactivation results 79:21
X-inactivation relatives
Gender Female
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