FOXG1 Proband Entry



   CSV explantation textc


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: 2015-12-02 01:17:53

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