FOXG1 Variant



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Variant ID: fm21

Systematic name: c.577G>A

Protein name: p.Ala193Thr

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology 1:290-293. Pubmed ID: 22190898

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.577G>A p.Ala193Thr Rett syndrome - sporadic Male 22190898, Van der Aa, N. et al (2011) fp24
c.577G>A p.Ala193Thr Not Rett syndrome - sporadic Male 24836831, Seltzer, L.E. et al (2014) fp44

Displaying a total number of 2 proband entries matching this variant.