W73C (p.Trp73Cys) variant of ABCC9 (O60706)
W73C (p.Trp73Cys) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The record also includes published literature and structural context.
W73C (p.Trp73Cys) variant details
- p.Trp73Cys
- rs1949379806
- ClinGen CA384131581
- ClinVar RCV001948243
- TOPMed rs1949379806
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)