FOXG1 Proband Entry
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: DB13-052a2
Comments:
Entry last updated on: 2018-06-26 10:38:56
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) | fp55 |
Displaying a total number of 9 proband entries.