FOXG1 Proband Entry
Systematic name: c.1200C>A
Protein name: p.Tyr400*
Alternate name(s):
Mutation type: nonsense
Domain: JARID1B binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: No
Method of testing: direct, MECP2, UBE3A negative
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
Source: 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
Publication ID: patient 2
Comments:
Entry last updated on: 2018-06-26 10:38:56
Similar entries in the proband database
There are no other entries in the database with a similar genotype.