FOXG1 Proband Entry
Entry ID: fp7
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
Gender: Female
Phenotype: Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5 negative
Source of DNA: blood
Familial testing: No
Control screening: No
dbSNP ID:
Source: 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
Publication ID: 1091
Comments:
Entry last updated on: 2018-06-26 10:38:56
Similar entries in the proband database
There are no other entries in the database with a similar genotype.