Variant information
Systematic Name (NM_004992.3:) |
c.1396-?_1397+?del |
---|---|
Protein name (NP_004983) |
p.? |
Alternate systematic Name (NM_001110792.1:) |
c.1432_1433del |
Alternate Protein name (NP_001104262) |
p.(Met478Alafs*20) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295882_153295883del |
Mutation type | exonic deletions |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1396-?_1397+?del | p.? | Female | Rett syndrome-classical | 3784 | Gross rearrangements of the MECP2 gene are found in both classicalal 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 |
2 | c.1396-?_1397+?del | p.? | Female | Rett syndrome-classical | 3785 | 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 |