Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain C-term
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1127C>G p.Pro376Arg Female Not Rett synd. 2369 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 View details