Variant information
Systematic Name (NM_004992.3:) |
c.27-12521_*5072del19784 |
---|---|
Protein name (NP_004983) |
p.Arg9fs |
Alternate systematic Name (NM_001110792.1:) |
c.63-12521_*5072del19784 |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153290746_153310529del19784 |
Mutation type | Frameshift insertion or 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.27-12521_*5072del19784 | p.Arg9fs | Female | Rett syndrome-Classical | 2531 | 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 |