Q74* (p.Gln74Ter) variant of SIX1 (Homeobox protein SIX1)
Q74* (p.Gln74Ter) in SIX1 (Homeobox protein SIX1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q74* (p.Gln74Ter) variant details
- p.Gln74Ter
- rs2502644465
- ClinGen CA389910777
- ClinVar RCV003443341
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available