W143* (p.Trp143Ter) variant of HSPG2 (P98160)
W143* (p.Trp143Ter) in HSPG2 (P98160) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance.
W143* (p.Trp143Ter) variant details
- p.Trp143Ter
- rs1557793652
- ClinGen CA338896514
- ClinVar RCV000722257
- TOPMed rs1557793652
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance