Proband information
Proband id | 4217 |
---|---|
Systematic Name (NM_004992.3:) |
c.*55C>G |
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*55C>G |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295763G>C |
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 | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.*55C>G | 3'UTR variation | Unknown | inherited from phenotypically normal mother | 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 | Female | found in offspring with autism | 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 | 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 |