FOXG1 Variant
Variant ID: fm13
Systematic name: c.256dupC
Protein name: p.Gln86Profs*35
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Le Guen, T., Bahi-Buisson, N., Nectoux, J., Boddaert, N., Fichou, Y., Diebold, B., Desguerre, I., Raqbi, F., Daire, V.C., Chelly, J., Bienvenu, T. (2011) A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics 12:42217. Pubmed ID: 20734096
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.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Male | 20734096, Le Guen, T. et al (2011) | fp13 |
c.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Female | 22129046, Takahashi, S. et al (2012) | fp28 |
c.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Female | 22739344, Allou, L. et al (2012) | fp30 |
c.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Female | 22968132, Ellaway, C.J. et al (2012) | fp33 |
Displaying a total number of 4 proband entries matching this variant.