K67N (p.Lys67Asn) variant of MYH6 (Myosin-6)
K67N (p.Lys67Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect. The record also includes published literature and structural context.
K67N (p.Lys67Asn) variant details
- p.Lys67Asn
- rs757559746
- ClinGen CA389031850
- ClinVar RCV001902678
- ClinVar RCV002482660
- Uncertain significance
- Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)