FOXG1 Proband Entry
Entry ID: fp34
Systematic name: c.610C>T
Protein name: p.Leu204Phe
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: No
Method of testing: array CGH negative, MECP2 screening negative
Source of DNA:
Familial testing: not found in mother but father not available for testing
Control screening:
dbSNP ID:
Source: 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
Publication ID:
Comments:
Entry last updated on: 2018-06-26 10:38:56
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There are no other entries in the database with a similar genotype.