A50D (p.Ala50Asp) variant of ANKRD1 (Q15327)
A50D (p.Ala50Asp) 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.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- rs2492962643
- ClinGen CA377553633
- ClinVar RCV003644072
- 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)