Variant information
Systematic Name (NM_004992.3:) |
c.515C>T |
---|---|
Protein name (NP_004983) |
p.Pro172Leu |
Alternate systematic Name (NM_001110792.1:) |
c.551C>T |
Alternate Protein name (NP_001104262) |
p.(Pro184Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296764G>A |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.515C>T | p.Pro172Leu | Female | Not Rett synd. | 4179 | ::: | View details |
2 | c.515C>T | p.Pro172Leu | Male | Not Rett synd. | 4180 | ::: | View details |