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: 2015-12-02 00:19:33

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.