N11S (p.Asn11Ser) variant of CREBBP (CREB-binding protein)
N11S (p.Asn11Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome. The record also includes published literature and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs2548581843
- ClinGen CA394567883
- ClinVar RCV003030475
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)