Variant information
Systematic Name (NM_004992.3:) |
c.753dupC |
---|---|
Protein name (NP_004983) |
p.Gly252fs |
Alternate systematic Name (NM_001110792.1:) |
c.789dupC |
Alternate Protein name (NP_001104262) |
p.(Gly264Argfs*7) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296526dupG |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.753dupC | p.Gly252fs | Female | Rett syndrome-Not certain | 369 | ::: | View details |
2 | c.753dupC | p.Gly252fs | Male | Not Rett synd. | 1199 | Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 | View details |
3 | c.753dupC | p.Gly252fs | Female | Rett syndrome-Classical | 1200 | Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 | View details |
4 | c.753dupC | p.Gly252fs | Female | Rett syndrome-Classical | 2598 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.":Journal of Human Genetics: 17387578 | View details |