FOXG1 Variant
Variant ID: fm12
Systematic name: c.1200C>G
Protein name: p.Tyr400*
Alternate name(s):
Mutation type: nonsense
Domain: JARID1B binding domain
Pathogenicity class: likely 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.1200C>G | p.Tyr400* | Rett syndrome - sporadic | Female | 19564653, Philippe, C et al (2010) | fp12 |
Displaying a total number of 1 proband entries matching this variant.