FOXG1 Variant
Variant ID: fm11
Systematic name: c.924G>A
Protein name: p.Trp308*
Alternate name(s):
Mutation type: nonsense
Domain: Groucho-binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Philippe, C., Amsallem, D., Fancannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. (2010) Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. Journal of Medical Genetics 47:59-65. Pubmed ID: 19564653
Comments:
Variant last updated on: 2018-06-26 10:41:54
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.924G>A | p.Trp308* | Not Rett syndrome - sporadic | Female | 19564653, Philippe, C et al (2010) | fp11 |
Displaying a total number of 1 proband entries matching this variant.