Variant information


Systematic Name c.499C>T
Protein name p.Arg167Trp
Mutation type missense
Domain Inter-domain
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-x-linked mental retardation
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.499C>T p.Arg167Trp Missense Inter-domain region Unknown Male Not Rett synd. 1013 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.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4458 :Das, S., Dempsey, M. U. Chicago::
3 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Rett synd. 4459 :Das, S., Dempsey, M. U. Chicago::
4 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4460 :Das, S., Dempsey, M. U. Chicago::
5 c.499C>T p.Arg167Trp missense Inter-domain Unknown Male Not Rett synd. 6591 :::