FOXG1 Variant



Variant ID: fm9

Systematic name: c.552dupC

Protein name: p.Ser185Glnfs*270

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Mencarelli, M.A., Spanhol-Rosseto, A., Artuso, R., Rondinela, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncia, A., Chabrol, B., Villard, L., Krumina, Z., Armstrong, J., Roche, A., Pineda, M., Gak, E., Mari, F., Ariani, F., Renieri, A. (2010) Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. Journal of Medical Genetics 47:49-53. Pubmed ID: 19578037

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.552dupC p.Ser185Glnfs*270 Rett syndrome - sporadic Female 19578037, Mencarelli, M.A. et al (2010) fp9

Displaying a total number of 1 proband entries matching this variant.