FOXG1 Proband Entry

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Entry ID: fp82

Systematic name: c.[563C>G(;)644_645delTCinsCT]

Protein name: p.[Ala188Gly(;)Phe215Ser]

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not known

Other mutation: Y

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA: Blood

Familial testing: mother and father tested normal

Control screening: No


Source: Directly submitted


Entry last updated on: 2018-06-26 10:38:56

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