Variant information
Systematic Name (NM_004992.3:) |
c.-112G>A |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.49G>A |
Alternate Protein name (NP_001104262) |
p.(Glu17Lys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363074C>T |
Mutation type | missense |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-112G>A | p.(=) | Female | Not Rett synd. | 2563 | Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 | View details |