FOXG1 Proband Entry



Entry ID: fp45

Systematic name: c.515_577del63

Protein name: p.Gly172_Met192del

Alternate name(s):

Mutation type: in-frame insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - familial

Other mutation: NK

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA:

Familial testing: also present in affected sister

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: DB12-017a1

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.515_577del63 p.Gly172_Met192del Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp46

Displaying a total number of 1 proband entries.