Variant information
Systematic Name (NM_004992.3:) |
c.605G>A |
---|---|
Protein name (NP_004983) |
p.Ala202His |
Alternate systematic Name (NM_001110792.1:) |
c.641G>A |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296674C>T |
Mutation type | Missense |
Domain | Inter-domain |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.605G>A | p.Ala202His | Female | Rett syndrome-atypical | 5330 | Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology:Xiao Zhou, et al : : | View details |