Variant information


Systematic Name
(NM_004992.3:)		 c.-168-?_*?dup
Protein name
(NP_004983)		 p.Met1?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
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
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