Q47K (p.Gln47Lys) variant of BUB1B (O60566)
Q47K (p.Gln47Lys) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mosaic variegated aneuploidy syndrome 1. The record also includes structural context.
Q47K (p.Gln47Lys) variant details
- p.Gln47Lys
- rs2542508769
- ClinGen CA391677203
- ClinVar RCV003618242
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available