FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.159_161dupCCA | p.His57dup | benign variant | Not Rett syndrome - sporadic | Female | 22190898 Van der Aa, N. et al (2011) | fp26 |
c.159_161dupCCA | p.His57dup | benign variant | Not Rett syndrome - sporadic | Male | 22190898 Van der Aa, N. et al (2011) | fp27 |
c.460dupG | p.Glu154Glyfs*301 | pathogenic variant | Rett syndrome - sporadic | Female | 22190898 Van der Aa, N. et al (2011) | fp25 |
c.577G>A | p.Ala193Thr | pathogenic variant | Rett syndrome - sporadic | Male | 22190898 Van der Aa, N. et al (2011) | fp24 |
Displaying 4 entries