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
Other mutation: NK
Chromosomal abnormality: Not known
Method of testing: NK
Source of DNA:
Familial testing: No
Control screening: No
dbSNP ID:
Source: Roche-Martinez, A., Gerotina, E., Armstrong-Moron, J., Sans-Capdevila, O., Pineda, M. (2012) FOXG1, a new gene responsible for the congenital form of Rett syndrome. Rev Neurol 52:597-602. Pubmed ID: 21488007
Publication ID:
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 - sporadic | Female | 19578037 Mencarelli, M.A. et al (2010) | fp10 |
Displaying a total number of 1 proband entries.