FOXG1 Proband Entry



Entry ID: fp32

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: 2015-12-02 01:19:28

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.