Variant information
Systematic Name (NM_004992.3:) |
c.[473C>T(;)*14G>A] |
---|---|
Protein name (NP_004983) |
"p.Thr158Met, 3'UTR variation" |
Alternate systematic Name (NM_001110792.1:) |
c.[509C>T;*14G>A] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296806G>A;153295804C>T] |
Mutation type | missense, 3'UTR variation |
Domain | MBD, 3'UTR |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[473C>T(;)*14G>A] | "p.Thr158Met, 3'UTR variation" | Female | Rett syndrome-Atypical | 4340 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |