Variant information
Systematic Name (NM_004992.3:) |
c.362A>G |
---|---|
Protein name (NP_004983) |
p.Asp121Gly |
Alternate systematic Name (NM_001110792.1:) |
c.398A>G |
Alternate Protein name (NP_001104262) |
p.(Asp133Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297673T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.362A>G | p.Asp121Gly | Female | Not Known | 2065 | ::: | View details |