Variant information
Systematic Name (NM_004992.3:) |
c.378-2A>C |
---|---|
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.414-2A>C |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296903T>G |
Mutation type | Intronic variation |
Domain | Intronic |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.378-2A>C | intronic variation | Unknown | Rett syndrome-Not certain | 253 | 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 |
2 | c.378-2A>C | intronic variation | Female | Not Known | 1677 | :Friez, Michael:: | View details |
3 | c.378-2A>C | intronic variation | Female | Rett syndrome-classical | 6603 | ::: | View details |