Variant information
Systematic Name (NM_004992.3:) |
c.964C>T |
---|---|
Protein name (NP_004983) |
p.Pro322Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1000C>T |
Alternate Protein name (NP_001104262) |
p.(Pro334Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296315G>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.964C>T | p.Pro322Ser | Male | Not Rett synd. | 2529 | A novel familial MECP2 mutation in a young boy: Clinical and molecular findings:P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli:Neurology: 16966553 | View details |
2 | c.964C>T | p.Pro322Ser | Female | Not Rett synd. | 2530 | A novel familial MECP2 mutation in a young boy: Clinical and molecular findings:P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli:Neurology: 16966553 | View details |