FOXG1 Variant
Systematic name: c.610C>T
Protein name: p.Leu204Phe
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Meneret, A., Mignot, C., An, I., Habert, M.-O., Jacquette, A., Vidaihet, M., Bienvenu, T., Roze, E. (2012) Generalised dystonia, athetosis, and Parkinsonism associated with FOXG1 mutation. Movement Disorders 27:160-161. Pubmed ID: 21953941
Comments: highly conserved amino acid in the forkhead domain, predicted to be pathogenic, not been reported in normal populations
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.610C>T | p.Leu204Phe | Not Rett syndrome - sporadic | Female | 21953941, Meneret, A. et al (2012) | fp34 |
Displaying a total number of 1 proband entries matching this variant.