FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.572T>G | p.Met191Arg | likely pathogenic variant | Not Rett syndrome - familial | Male | 26364767 McMahon KQ et al (2015) | fp95 |
c.572T>G | p.Met191Arg | likely pathogenic variant | Not Rett syndrome - familial | Female | 26364767 McMahon KQ et al (2015) | fp94 |
c.572T>G | p.Met191Arg | likely pathogenic variant | Not Rett syndrome - familial | Female | 26364767 McMahon KQ et al (2015) | fp93 |
Displaying 3 entries