R77* (p.Arg77Ter) variant of TTN (Titin)
R77* (p.Arg77Ter) in TTN (Titin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
R77* (p.Arg77Ter) variant details
- p.Arg77Ter
- rs1347415564
- ClinGen CA349530672
- NCI-TCGA Cosmic COSV6038
- cosmic curated COSV60385
- Likely pathogenic
- Stop Gained
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)