FOXG1 Variant
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: 2018-06-26 10:41:54
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.