Variant information
Systematic Name (NM_004992.3:) |
c.1340C>T |
---|---|
Protein name (NP_004983) |
p.Ala447Val |
Alternate systematic Name (NM_001110792.1:) |
c.1376C>T |
Alternate Protein name (NP_001104262) |
p.(Ala459Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295939G>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1340C>T | p.Ala447Val | Female | Rett syndrome-Not certain | 1650 | ::: | View details |