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