K102* (p.Lys102Ter) variant of PKD1 (Polycystin-1)
K102* (p.Lys102Ter) in PKD1 (Polycystin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K102* (p.Lys102Ter) variant details
- p.Lys102Ter
- rs2092684104
- ClinGen CA394396009
- ClinVar RCV001292014
- ClinVar RCV006249740
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)