FOXG1 Proband Entry
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: 2018-06-26 10:38:56
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.