Y430C (p.Tyr430Cys) variant of BRD4 (Bromodomain-containing protein 4)
Y430C (p.Tyr430Cys) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of See cases; Cornelia de Lange syndrome 6. The record also includes published literature and structural context.
Y430C (p.Tyr430Cys) variant details
- p.Tyr430Cys
- rs2512579975
- ClinGen CA404483831
- ClinVar RCV003151935
- ClinVar RCV003448989
- Likely pathogenic
- See cases; Cornelia de Lange syndrome 6
- Missense
- ClinVar: Likely pathogenic (See cases; Cornelia de Lange syndrome 6)
- EBI: Pathogenic (in CDLS6)
- UniProt: Pathogenic (in CDLS6)
- Structural context available
- Cited in: Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. (PMID 35470444)
- Cited in: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. (PMID 29379197)