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 exon deletions
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