FOXG1 Variant



Variant ID: fm36

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

dbSNP ID:

First reference: 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

Comments:

Variant last updated on: 2015-12-02 00:19:33

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.735delC p.Tyr246Thrfs*80 Not Rett syndrome - sporadic Male 24836831, Seltzer, L.E. et al (2014) fp52

Displaying a total number of 1 proband entries matching this variant.