FOXG1 Proband Entry



Entry ID: fp40

Systematic name: c.256C>T

Protein name: p.Gln86*

Alternate name(s):

Mutation type: nonsense

Domain: Inter domain region

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: DB12-002

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.256C>T p.Gln86* Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp20

Displaying a total number of 1 proband entries.