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: 2015-12-02 00:19:10

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.