Variant information
Systematic Name (NM_004992.3:) |
c.1164_1206del43 |
---|---|
Protein name (NP_004983) |
p.Pro389fs |
Alternate systematic Name (NM_001110792.1:) |
c.1200_1242del43 |
Alternate Protein name (NP_001104262) |
p.(Pro401Leufs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296073_153296115del43 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1164_1206del43 | p.Pro389fs | Female | Rett syndrome-Not certain | 43 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
2 | c.1164_1206del43 | p.Pro389fs | Unknown | Rett syndrome-Not certain | 260 | 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, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
3 | c.1164_1206del43 | p.Pro389fs | Unknown | Rett syndrome-Not certain | 261 | 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, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
4 | c.1164_1206del43 | p.Pro389fs | Female | Rett syndrome-not certain | 3415 | Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972 | View details |