N30D (p.Asn30Asp) variant of ABCC9 (O60706)
N30D (p.Asn30Asp) 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 population frequency data, published literature, and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs779664751
- ClinGen CA6481956
- ClinVar RCV003078248
- ExAC rs779664751
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)