FOXG1 Variant
Variant ID: fm27
Systematic name: c.1200C>A
Protein name: p.Tyr400*
Alternate name(s):
Mutation type: nonsense
Domain: JARID1B binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: De Filippis, R., Pancrazi, L., Bjorgo, K., Rosseto, A., Kleefstra, T., Grillo, E., Panighini, A., Cardarelli, F., Meloni, I., Ariani, F., Mencarelli, M.A., Hayek, J., Renieri, A., Costa, M., Mari, F. (2012) Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. Clinical Genetics 82:395-403. Pubmed ID: 22091895
Comments: truncation mutation causing reduction in chromatin binding affinity (in vitro assay)
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>A | p.Tyr400* | Not Rett syndrome - sporadic | Female | 22091895, De Filippis, R. et al (2012) | fp36 |
Displaying a total number of 1 proband entries matching this variant.