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: 2015-12-02 01:19:28

Similar entries in the proband database

There are no other entries in the database with a similar genotype.