V1266M (p.Val1266Met) variant of ABCC9 (O60706)
V1266M (p.Val1266Met) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Dilated cardiomyopathy 1O; not provided. The record also includes published literature and structural context.
V1266M (p.Val1266Met) variant details
- p.Val1266Met
- rs1555179320
- ClinGen CA384136638
- ClinVar RCV000524623
- ClinVar RCV000622750
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Dilated cardiomyopathy 1O; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Dilated cardiomyopathy 1O; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)