Q51* (p.Gln51Ter) variant of ACTC1 (Actin, alpha cardiac muscle 1)
Q51* (p.Gln51Ter) in ACTC1 (Actin, alpha cardiac muscle 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- rs2504183400
- ClinGen CA391632213
- ClinVar RCV002870949
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)