E76I (p.Glu76Ile) variant of ANKRD1 (Q15327)
E76I (p.Glu76Ile) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The record also includes published literature and structural context.
E76I (p.Glu76Ile) variant details
- p.Glu76Ile
- rs1847407360
- ClinGen CA916081613
- ClinVar RCV001045721
- Ensembl rs1847407360
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)