I820N (p.Ile820Asn) variant of MYH6 (Myosin-6)
I820N (p.Ile820Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 3. The record also includes published literature and structural context.
I820N (p.Ile820Asn) variant details
- p.Ile820Asn
- rs267606903
- ClinGen CA123766
- ClinVar RCV000015211
- UniProt VAR 031883
- Pathogenic
- Atrial septal defect 3
- Missense
- ClinVar: Pathogenic (Atrial septal defect 3)
- EBI: Pathogenic (in ASD3)
- UniProt: Pathogenic (in ASD3)
- Structural context available
- Cited in: Mutation in myosin heavy chain 6 causes atrial septal defect. (PMID 15735645)