FOXG1 Proband Entry



Entry ID: fp5

Systematic name: c.1248C>G

Protein name: p.Tyr416*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5 negative

Source of DNA: blood

Familial testing: de novo

Control screening:

dbSNP ID:

Source: Bahi-Buisson, N., Nectoux, J., Girard, B., Van Esch, H., De Ravel, T., Boddaret, N., Plouin, P., Rio, M., Fichou, Y., Chelly, J., Bienvenu, T. (2010) Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 11:241-249. Pubmed ID: 19806373

Publication ID: Case 1

Comments:

Entry last updated on: 2015-12-02 01:17:53

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