Proband information
Proband id | 1016 |
---|---|
Systematic Name (NM_004992.3:) |
c.1196C>T |
Protein name (NP_004983) |
p.Pro399Leu |
Alternate systematic Name (NM_001110792.1:) |
c.1232C>T |
Alternate Protein name (NP_001104262) |
p.(Pro411Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296083G>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 500 chromosomes tested and not found in 500 chromosomes |
Detection | |
Extent | |
Source of DNA | |
Carrier | N |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | |
Phenotype-class | Not Rett synd.-X-linked mental retardation |
Reference | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1196C>T | p.Pro399Leu | Male | Not Rett synd. | 1016 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 | |
2 | c.1196C>T | p.Pro399Leu | Female | Unaffected father is carrier | Rett syndrome-Not certain | 1536 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
3 | c.1196C>T | p.Pro399Leu | Male | Relative of proband | Not Rett synd. | 1537 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
4 | c.1196C>T | p.Pro399Leu | Unknown | Not Rett synd. | 5214 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |