Proband information



Proband id 6904
Systematic Name c.1358G>A
Protein name p.Arg453Gln
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1358G>A p.Arg453Gln Missense C-term Unknown Male Not Rett synd. 1017 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.1358G>A p.Arg453Gln missense C-term Unknown Female Not Known 6904 :::