E98G (p.Glu98Gly) variant of ABCC9 (O60706)
E98G (p.Glu98Gly) 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; Cardiovascular phenotype. The record also includes published literature and structural context.
E98G (p.Glu98Gly) variant details
- p.Glu98Gly
- rs1592251379
- ClinGen CA384129732
- ClinVar RCV000806131
- ClinVar RCV004028235
- Uncertain significance
- Dilated cardiomyopathy 1O; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)