FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.326C>T | p.Pro109Leu | likely benign variant | Not Rett syndrome - sporadic | Female | 21280142 Le Guen, T. et al (2010) | fp14 |
c.326C>T | p.Pro109Leu | likely benign variant | Not Rett syndrome - sporadic | Male | 21280142 Le Guen, T. et al (2010) | fp15 |
c.730C>T | p.Arg244Cys | pathogenic variant | Rett syndrome - sporadic | Female | 21280142 Le Guen, T. et al (2010) | fp16 |
Displaying 3 entries