FOXG1 Proband Entry
Systematic name: c.1200C>G
Protein name: p.Tyr400*
Alternate name(s):
Mutation type: nonsense
Domain: JARID1B binding domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct, MECP2, CDKL5 negative, exons 1-5 FOXG1
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
Source: Philippe, C., Amsallem, D., Fancannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. (2010) Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. Journal of Medical Genetics 47:59-65. Pubmed ID: 19564653
Publication ID: 2
Comments:
Entry last updated on: 2018-06-26 10:38:56
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There are no other entries in the database with a similar genotype.