FOXG1 Variant

Variant ID: fm26

Systematic name: c.136C>T

Protein name: p.Gln46*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

Pathogenicity class: pathogenic variant


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


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.136C>T p.Gln46* Not Rett syndrome - sporadic Female 22091895, De Filippis, R. et al (2012) fp35

Displaying a total number of 1 proband entries matching this variant.