T36I (p.Thr36Ile) variant of BBS1 (BBSome complex member BBS1)
T36I (p.Thr36Ile) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- TOPMed rs1339000905
- Missense
- Structural context available