FOXG1 Proband Entry
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:
dbSNP ID:
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
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.