FOXG1 Variant



Variant ID: fm18

Systematic name: c.256C>T

Protein name: p.Gln86*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

Pathogenicity class: pathogenic variant

dbSNP ID:

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

Comments:

Variant last updated on: 2015-12-02 00:19:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.256C>T p.Gln86* Rett syndrome - sporadic Female 21441262, Kortum, F. et al (2011) fp20
c.256C>T p.Gln86* Not Rett syndrome - sporadic Female 24836831, Seltzer, L.E. et al (2014) fp40

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