Variant information
Systematic Name (NM_004992.3:) |
c.[378-61C>G; *93G>A] |
---|---|
Protein name (NP_004983) |
intronic variation and 3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.[414-61C>G;*93G>A] |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296962G>C;153295725C>T] |
Mutation type | Intronic variation, 3'UTR variation |
Domain | Intronic, 3'UTR |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[378-61C>G; *93G>A] | intronic variation and 3'UTR variation | Male | Not Rett synd. | 1979 | MECP2 Mutation Analysis in Patients With Mental Retardation:Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, and Irma Järvelä:American Journal of Medical Genetics: 15578581 | View details |