FOXG1 Proband Entry



Entry ID: fp24

Systematic name: c.577G>A

Protein name: p.Ala193Thr

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5, FOXG1

Source of DNA: not certain

Familial testing: de novo

Control screening:

dbSNP ID:

Source: Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology 1:290-293. Pubmed ID: 22190898

Publication ID: Case 1

Comments:

Entry last updated on: 2015-12-02 01:18:46

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.577G>A p.Ala193Thr Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp44

Displaying a total number of 1 proband entries.