FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.133_469del337insACCCACCGCCCC | p.Pro45Thrfs*39 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp43 |
c.222_223dupGC | p.Pro75Argfs*118 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp54 |
c.256C>T | p.Gln86* | pathogenic variant | Not Rett syndrome - sporadic | Female | 24836831 Seltzer, L.E. et al (2014) | fp40 |
c.430G>T | p.Glu144* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp39 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - sporadic | Female | 24836831 Seltzer, L.E. et al (2014) | fp37 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp38 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp50 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - familial | Male | 24836831 Seltzer, L.E. et al (2014) | fp51 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp55 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp56 |
c.506delG | p.Gly169Alafs*23 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp47 |
c.515_577del63 | p.Gly172_Met192del | pathogenic variant | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp45 |
c.515_577del63 | p.Gly172_Met192del | pathogenic variant | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp46 |
c.577G>A | p.Ala193Thr | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp44 |
c.586C>T | p.Gln196* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp48 |
c.651C>G | p.Tyr217* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp41 |
c.735delC | p.Tyr246Thrfs*80 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp52 |
c.755G>T | p.Gly252Val | pathogenic variant | Not Rett syndrome - sporadic | Female | 24836831 Seltzer, L.E. et al (2014) | fp49 |
c.762C>G | p.Tyr254* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp53 |
Displaying 19 entries