Q467H (p.Gln467His) variant of BUB1B (O60566)
Q467H (p.Gln467His) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mosaic variegated aneuploidy syndrome 1. The record also includes structural context.
Q467H (p.Gln467His) variant details
- p.Gln467His
- rs2542555071
- ClinGen CA391689332
- ClinVar RCV003230326
- Likely pathogenic
- Mosaic variegated aneuploidy syndrome 1
- Missense
- ClinVar: Likely pathogenic (Mosaic variegated aneuploidy syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available