T78K (p.Thr78Lys) variant of ASH1L (Q9NR48)
T78K (p.Thr78Lys) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ASH1L-related disorder.
T78K (p.Thr78Lys) variant details
- p.Thr78Lys
- rs2524741917
- ClinGen CA342714801
- ClinVar RCV004527879
- Uncertain significance
- ASH1L-related disorder
- Missense
- ClinVar: Uncertain significance (ASH1L-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance