FOXG1 Proband Entry



Entry ID: fp49

Systematic name: c.755G>T

Protein name: p.Gly252Val

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Female

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: DB13-012

Comments:

Entry last updated on: 2015-12-02 01:19:54

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.755G>T p.Gly252Val Not known Female Directly submitted fp85

Displaying a total number of 1 proband entries.