Variant information
Systematic Name (NM_004992.3:) |
c.26+2T>A |
---|---|
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.62+5421T>A |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153357640A>T |
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.26+2T>A | intronic variation | Female | Rett syndrome-Not certain | 1629 | :Bunyan, D.:: | View details |