FOXG1 Variant
Variant ID: fm23
Systematic name: c.689G>A
Protein name: p.Arg230His
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: 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
Comments:
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.689G>A | p.Arg230His | Rett syndrome - sporadic | Female | 22129046, Takahashi, S. et al (2012) | fp29 |
Displaying a total number of 1 proband entries matching this variant.