FOXG1 Variant
Variant ID: fm7
Systematic name: c.681C>G
Protein name: p.Asn227Lys
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: variant of uncertain significance
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: aa substitution in forkhead binding domain
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.681C>G | p.Asn227Lys | Rett syndrome - sporadic | Female | 19578037, Mencarelli, M.A. et al (2010) | fp7 |
Displaying a total number of 1 proband entries matching this variant.