Variant information
Systematic Name (NM_004992.3:) |
c.1141C>T |
---|---|
Protein name (NP_004983) |
p.Pro381Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1177C>T |
Alternate Protein name (NP_001104262) |
p.(Pro393Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296138G>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.1141C>T | p.Pro381Ser | Female | Rett syndrome-preserved speech | 6615 | ::: | View details |