FOXG1 Proband Entry
Systematic name: c.689G>A
Protein name: p.Arg230His
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct, MECP2, CDKL5, FOXG1
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
Source: Takahashi, S., Matsumoto, N., Okayama, A., Suzuki, N, Araki, A., Okajima, K., Tanaka, H., Miyamoto, A. (2012) FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. Clinical Genetics 82:569-573. Pubmed ID: 22129046
Publication ID: Patient 2
Comments:
Entry last updated on: 2018-06-26 10:38:56
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