FOXG1 Variant
Variant ID: fm19
Systematic name: c.505_506delGGinsT
Protein name: p.Gly169Serfs*23
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
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: 2018-06-26 10:41:54
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.505_506delGGinsT | p.Gly169Serfs*23 | Rett syndrome - sporadic | Male | 21441262, Kortum, F. et al (2011) | fp22 |
c.505_506delGGinsT | p.Gly169Serfs*23 | Not known | Male | Directly submitted | fp84 |
Displaying a total number of 2 proband entries matching this variant.