FOXG1 Variant



   CSV explantation text


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: 2015-12-02 00:19:33

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.