FOXG1 Proband Entry
Entry ID: fp52
Systematic name: c.735delC
Protein name: p.Tyr246Thrfs*80
Alternate name(s):
Mutation type: frameshift insertion or duplication
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - sporadic
Other mutation: NK
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA:
Familial testing: No
Control screening: No
dbSNP ID:
Source: Seltzer, L.E., Ma, M., Ahmed, S., Bertrand, M., Dobyns, W.B., Wheless, J., Paciorkowski, A.R. (2014) Epilepsy and outcome in FOXG1-related disorders. Epilepsia 55:1292-1300. Pubmed ID: 24836831
Publication ID: DB13-028
Comments:
Entry last updated on: 2018-06-26 10:38:56
Similar entries in the proband database
There are no other entries in the database with a similar genotype.