FOXG1 Variant

Variant ID: fm31

Systematic name: c.133_469del337insACCCACCGCCCC

Protein name: p.Pro45Thrfs*39

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant


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


Variant last updated on: 2018-06-26 10:41:54

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.133_469del337insACCCACCGCCCC p.Pro45Thrfs*39 Not Rett syndrome - sporadic Male 24836831, Seltzer, L.E. et al (2014) fp43

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