FOXG1 Proband Entry



Entry ID: fp44

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: Not Rett syndrome - sporadic

Other mutation: NK

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA:

Familial testing: No

Control screening: No

dbSNP ID:

Source: Seltzer, L.E., Ma, M., Ahmed, S., Bertrand, M., Dobyns, W.B., Wheless, J., Paciorkowski, A.R. (2014) Epilepsy and outcome in FOXG1-related disorders. Epilepsia 55:1292-1300. Pubmed ID: 24836831

Publication ID: DB12-016

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.577G>A p.Ala193Thr Rett syndrome - sporadic Male 22190898 Van der Aa, N. et al (2011) fp24

Displaying a total number of 1 proband entries.