FOXG1 Variant
Variant ID: fm30
Systematic name: c.506dup
Protein name: p.Lys170Glnfs*285
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: De Bruyn, C., Vanderhasselt, T., Tanyalcin, I., Keymolen, K., Van Rompaey, K.L., De Meirleir, L., Jansen, A.C. (2014) Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. European Journal of Paediatric Neurology 18:420-426. Pubmed ID: 24388699
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.506dup | p.Lys170Glnfs*285 | Not Rett syndrome - sporadic | Male | 24388699, De Bruyn, C. et al (2014) | fp42 |
Displaying a total number of 1 proband entries matching this variant.