FOXG1 Variant

   CSV explantation text

Variant ID: fm1

Systematic name: c.974_975insA

Protein name: p.Ser326Glufs*129

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: likely pathogenic variant


First reference: Diebold, B., Delepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T. (2014) Somatic mosaicism for a FOXG1 mutation: diagnostic implication.. Clinical Genetics 85:589-591. Pubmed ID: 24766421

Comments: change of 60 aa donwstream

Variant last updated on: 2018-06-26 10:34:32

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.974_975insA p.Ser326Glufs*129 Not Rett syndrome - sporadic Male 24766421, Diebold, B. et al (2014) fp1

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