Variant information
Systematic Name (NM_004992.3:) |
c.-168-?_26+?del |
---|---|
Protein name (NP_004983) |
p.Met1? |
Alternate systematic Name (NM_001110792.1:) |
c.-8_62+5419del |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153357642_153363130del |
Mutation type | large deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Not certain | 1820 | :Bunyan, D.:: | View details |
2 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Not certain | 1865 | :Bunyan, D.:: | View details |
3 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Classical | 2073 | :Cardiff, UK:: | View details |
4 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Atypical | 2075 | :Cardiff, UK:: | View details |
5 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Classical | 2076 | :Cardiff, UK:: | View details |
6 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Classical | 2498 | Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165 | View details |
7 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-Classical | 2534 | Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379 | View details |
8 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 2760 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 | View details |
9 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 2761 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 | View details |
10 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 2783 | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 | View details |
11 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-not certain | 3611 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
12 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 3769 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 | View details |
13 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 3770 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 | View details |
14 | c.-168-?_26+?del | p.Met1? | Female | Rett syndrome-classical | 3771 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 | View details |