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: 2015-12-02 00:18:24

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.