FOXG1 Variant

   CSV explantation text

Variant ID: fm20

Systematic name: c.263_278del16

Protein name: p.Arg88Profs*99

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant


First reference: Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L.E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W.B. (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48:396-406. Pubmed ID: 21441262


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.263_278del16 p.Arg88Profs*99 Rett syndrome - sporadic Male 21441262, Kortum, F. et al (2011) fp23
c.263_278del16 p.Arg88Profs*99 Not known Male Directly submitted fp83

Displaying a total number of 2 proband entries matching this variant.