FOXG1 Proband Entry

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Entry ID: fp2

Systematic name: c.788_792delACGTG

Protein name: p.Asp263Valfs*190

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: Not known

Method of testing: direct, MECP2, CDKL5 negative

Source of DNA: blood

Familial testing: not detected in parents

Control screening:


Source: Das, D.K., Jadhav, V., Ghattargi, V., Udani, V. (2014) Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome. Gene 538:109-112. Pubmed ID: 24412290

Publication ID: patient 17


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

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