Proband information



Proband id 4217
Systematic Name c.*55C>G
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 178 chromosomes tested and not found in 177 chromosomes
Detection DHPLC
Extent exons2-4
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-normal control
Reference Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Unknown Not Rett synd. 4215 Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243
2 c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 4216 Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243
3 c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Male Not Rett synd. 4217 Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243