FOXG1 Variant



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Variant ID: fm5

Systematic name: c.1248C>G

Protein name: p.Tyr416*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

Pathogenicity class: likely pathogenic variant

dbSNP ID:

First reference: 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

Comments: deletion of ~60 aa downstream

Variant last updated on: 2015-12-02 00:18:24

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1248C>G p.Tyr416* Rett syndrome - sporadic Female 19806373, Bahi-Buisson, N. et al (2010) fp5

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