FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp10

Systematic name: c.624C>G

Protein name: p.Tyr208*

Alternate name(s):

Mutation type: nonsense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

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: de novo

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: 60719368

Comments:

Entry last updated on: 2015-12-02 01:17:53

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.624C>G p.Tyr208* Rett syndrome Female 21488007 Roche-Martinez, A. et al (2012) fp32

Displaying a total number of 1 proband entries.