Variant information
Systematic Name (NM_004992.3:) |
c.308G>A |
---|---|
Protein name (NP_004983) |
p.Gly103Asp |
Alternate systematic Name (NM_001110792.1:) |
c.344G>A |
Alternate Protein name (NP_001104262) |
p.(Gly115Asp) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297727C>T |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.308G>A | p.Gly103Asp | Female | Rett syndrome-atypical | 4395 | :Khajuria, R.:: | View details |