W81* (p.Trp81Ter) variant of ACTC1 (Actin, alpha cardiac muscle 1)
W81* (p.Trp81Ter) 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.
W81* (p.Trp81Ter) variant details
- p.Trp81Ter
- rs1891749863
- ClinGen CA391631779
- ClinVar RCV003992009
- TOPMed rs1891749863
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)