Variant information
Systematic Name (NM_004992.3:) |
c.1127C>G |
---|---|
Protein name (NP_004983) |
p.Pro376Arg |
Alternate systematic Name (NM_001110792.1:) |
c.1163C>G |
Alternate Protein name (NP_001104262) |
p.(Pro388Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296152G>C |
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 |