Variant information
Systematic Name (NM_004992.3:) |
c.27-4722_*112delinsCACTTTGTG |
---|---|
Protein name (NP_004983) |
p.Arg9fs |
Alternate systematic Name (NM_001110792.1:) |
c.63-4722_*112delinsCACTTTGTG |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295706_153302730delinsCACAAAGTG |
Mutation type | frameshift combined insertion and 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.27-4722_*112delinsCACTTTGTG | p.Arg9fs | Female | Rett syndrome-not certain | 3343 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | View details |