Variant information
Systematic Name (NM_004992.3:) |
c.631-?_657+?del |
---|---|
Protein name (NP_004983) |
p.? |
Alternate systematic Name (NM_001110792.1:) |
c.667_693del |
Alternate Protein name (NP_001104262) |
p.(Arg223_Lys231del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296622_153296648del |
Mutation type | exonic deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.631-?_657+?del | p.? | Female | Rett syndrome-classical | 3786 | Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication:Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A:Human Mutation: 15241799 | View details |