Proband information
Proband id | 1018 |
---|---|
Systematic Name (NM_004992.3:) |
c.850A>G |
Protein name (NP_004983) |
p.Lys284Glu |
Alternate systematic Name (NM_001110792.1:) |
c.886A>G |
Alternate Protein name (NP_001104262) |
p.(Lys296Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296429T>C |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 500 chromosomes tested and not found in 500 chromosomes |
Detection | |
Extent | |
Source of DNA | |
Carrier | Y |
Carrier result | Unaffected mother has variation |
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.850A>G | p.Lys284Glu | Male | Unaffected mother has variation | Not Rett synd. | 1018 | 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 |