D8N (p.Asp8Asn) variant of BBS1 (BBSome complex member BBS1)
D8N (p.Asp8Asn) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- NCI-TCGA Cosmic COSV5915
- cosmic curated COSV59151
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available