FOXG1 Variant
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: 2018-06-26 10:41:54
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.