N17H (p.Asn17His) variant of BBS1 (BBSome complex member BBS1)
N17H (p.Asn17His) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
N17H (p.Asn17His) variant details
- p.Asn17His
- TOPMed rs1855931484
- Missense
- Structural context available