FOXG1 Variant



Variant ID: fm33

Systematic name: c.506delG

Protein name: p.Gly169Alafs*23

Alternate name(s):

Mutation type: frameshift insertion or duplication

Domain: Inter domain region

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.506delG p.Gly169Alafs*23 Not Rett syndrome - sporadic Male 24836831, Seltzer, L.E. et al (2014) fp47

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