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