FOXG1 Variant



   CSV explantation text


Variant ID: fm17

Systematic name: c.700T>C

Protein name: p.Ser234Pro

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

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.700T>C p.Ser234Pro Rett syndrome - sporadic Male 21441262, Kortum, F. et al (2011) fp18

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