FOXG1 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.552dupC p.Ser185Glnfs*270 pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp9
c.624C>G p.Tyr208* pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp10
c.643T>C p.Phe215Leu likely pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp8
c.681C>G p.Asn227Lys variant of uncertain significance Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp7

Displaying 4 entries