FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp55

Systematic name: c.460dupG

Protein name: p.Glu154Glyfs*301

Alternate name(s):

Mutation type: frameshift 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 identical twin

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: DB13-052a1

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.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp6
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp19
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp21
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp25
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp37
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp38
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp50
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Male 24836831 Seltzer, L.E. et al (2014) fp51
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp56

Displaying a total number of 9 proband entries.