Variant information
Systematic Name (NM_004992.3:) |
c.-168-?_*?dup |
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Protein name (NP_004983) |
p.Met1? |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | In-frame insertion or deletion |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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1 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1971 | Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome:M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen:Journal of Medical Genetics: 15689435 | View details |
2 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1972 | Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome:M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen:Journal of Medical Genetics: 15689435 | View details |
3 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1982 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
4 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1983 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
5 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1984 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
6 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1985 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
7 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1986 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
8 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1987 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
9 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1988 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
10 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1989 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
11 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1990 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
12 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1991 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
13 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1992 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
14 | c.-168-?_*?dup | p.Met1? | Male | Not Rett synd. | 1993 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
15 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1994 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
16 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1995 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |
17 | c.-168-?_*?dup | p.Met1? | Female | Not Rett synd. | 1996 | Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males:Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G:American Journal of Human Genetics: 16080119 | View details |