FOXG1 Variant



   CSV explantation text


Variant ID: fm37

Systematic name: c.762C>G

Protein name: p.Tyr254*

Alternate name(s):

Mutation type: nonsense

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.762C>G p.Tyr254* Not Rett syndrome - sporadic Male 24836831, Seltzer, L.E. et al (2014) fp53

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