Variant information
Systematic Name (NM_004992.3:) |
c.518C>G |
---|---|
Protein name (NP_004983) |
p.Pro173Arg |
Alternate systematic Name (NM_001110792.1:) |
c.554C>G |
Alternate Protein name (NP_001104262) |
p.(Pro185Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296761G>C |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.518C>G | p.Pro173Arg | Female | Not Known | 4466 | :Das, S., Dempsey, M. U. Chicago:: | View details |
2 | c.518C>G | p.Pro173Arg | Female | Not Rett synd. | 4467 | :Das, S., Dempsey, M. U. Chicago:: | View details |
3 | c.518C>G | p.Pro173Arg | Female | Not Known | 4468 | :Das, S., Dempsey, M. U. Chicago:: | View details |
4 | c.518C>G | p.Pro173Arg | Female | Not Rett synd. | 6590 | ::: | View details |