Q4* (p.Gln4Ter) variant of TTN (Titin)
Q4* (p.Gln4Ter) in TTN (Titin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs2534633050
- ClinGen CA349534004
- ClinVar RCV002735354
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)