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
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: 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.