FOXG1 Proband Entry



Entry ID: fp35

Systematic name: c.136C>T

Protein name: p.Gln46*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5, 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 1

Comments:

Entry last updated on: 2015-12-02 01:19:28

Similar entries in the proband database

There are no other entries in the database with a similar genotype.