Q16* (p.Gln16Ter) variant of ABCC6 (O95255)
Q16* (p.Gln16Ter) in ABCC6 (O95255) 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.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- rs1555523535
- ClinGen CA395202720
- ClinVar RCV000499357
- Ensembl rs1555523535
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)