FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.256C>T | p.Gln86* | pathogenic variant | Rett syndrome - sporadic | Female | 21441262 Kortum, F. et al (2011) | fp20 |
c.263_278del16 | p.Arg88Profs*99 | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp23 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Rett syndrome - sporadic | Female | 21441262 Kortum, F. et al (2011) | fp19 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp21 |
c.505_506delGGinsT | p.Gly169Serfs*23 | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp22 |
c.700T>C | p.Ser234Pro | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp18 |
c.757A>G | p.Asn253Asp | pathogenic variant | Rett syndrome - sporadic | Female | 21441262 Kortum, F. et al (2011) | fp17 |
Displaying 7 entries