FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp29

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: 2015-12-02 01:18:46

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