C37* (p.Cys37Ter) variant of COL6A2 (Collagen alpha-2(VI) chain)
C37* (p.Cys37Ter) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C37* (p.Cys37Ter) variant details
- p.Cys37Ter
- rs986393872
- ClinGen CA321957047
- ClinVar RCV001375966
- gnomAD rs986393872
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)