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