FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.924G>A | p.Trp308* | pathogenic variant | Not Rett syndrome - sporadic | Female | 19564653 Philippe, C et al (2010) | fp11 |
c.1200C>G | p.Tyr400* | likely pathogenic variant | Rett syndrome - sporadic | Female | 19564653 Philippe, C et al (2010) | fp12 |
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