Variant information
Systematic Name (NM_004992.3:) |
c.[965C>T(;)999G>T] |
---|---|
Protein name (NP_004983) |
p.[Pro322Leu(;)Gly333Gly] |
Alternate systematic Name (NM_001110792.1:) |
c.[1001C>T;1035G>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296314G>A;153296280C>A] |
Mutation type | Missense, silent |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[965C>T(;)999G>T] | p.[Pro322Leu(;)Gly333Gly] | Female | Rett syndrome-Not certain | 122 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |