Variant information


Systematic Name
(NM_004992.3:)
c.*9G>A
Protein name
(NP_004983)
3'UTR variation
Alternate systematic Name
(NM_001110792.1:)
c.*9G>A
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295809C>T
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.*9G>A 3'UTR variation Female Not Rett synd. 1386 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 View details
2 c.*9G>A 3'UTR variation Unknown Rett syndrome-Not certain 1541 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906 View details
3 c.*9G>A 3'UTR variation Unknown Not Rett synd. 2674 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., AtaÝde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 View details
4 c.*9G>A 3'UTR variation Female Rett syndrome-atypical 3858 Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 View details
5 c.*9G>A 3'UTR variation Unknown Not Rett synd. 4201 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 View details
6 c.*9G>A 3'UTR variation Female Not Rett synd. 4202 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 View details
7 c.*9G>A 3'UTR variation Male Not Rett synd. 4203 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 View details
8 c.*9G>A 3'UTR variation Male Not Rett synd. 4204 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 View details
9 c.*9G>A 3'UTR variation Male Not Rett synd. 4205 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 View details
10 c.*9G>A 3'UTR variation Male Not Rett synd. 4206 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 View details
11 c.*9G>A 3'UTR variation Male Not Rett synd. 4207 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 View details
12 c.*9G>A 3'UTR variation Male Not Rett synd. 4208 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 View details
13 c.*9G>A 3'UTR variation Male Not Rett synd. 4209 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 View details
14 c.*9G>A 3'UTR variation Male Not Rett synd. 4210 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 View details
15 c.*9G>A 3'UTR variation Male Not Rett synd. 4211 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 View details
16 c.*9G>A 3'UTR variation Male Not Rett synd. 4212 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 View details
17 c.*9G>A 3'UTR variation Male Not Rett synd. 4213 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 View details
18 c.*9G>A 3'UTR variation Male Not Rett synd. 4214 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 View details
19 c.*9G>A Intronic variation Female Not Rett synd. 6873 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561 View details