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: 2018-06-26 10:38:56
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.