FOXG1 Variant

   CSV explantation text

Variant ID: fm25

Systematic name: c.610C>T

Protein name: p.Leu204Phe

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant


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.