Variant information


Systematic Name c.591G>A
Protein name p.Thr197Thr
Mutation type Silent
Domain Inter-domain region
Pathogenicity Silent polymorphism

Proband information


Source of DNA
Detection SSCP
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-autism only
Reference MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.591G>A p.Thr197Thr Silent Inter-domain region Silent polymorphism Male Not Rett synd. 2375 MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631