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: 2018-06-26 10:38:56
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