Q506P (p.Gln506Pro) variant of PTPN11 (Q06124)
Q506P (p.Gln506Pro) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The record also includes published literature and structural context.
Q506P (p.Gln506Pro) variant details
- p.Gln506Pro
- rs397509345
- ClinGen CA284668
- ClinVar RCV000049230
- Ensembl rs397509345
- Pathogenic
- RASopathy
- Missense
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: A novel PTPN11 mutation in LEOPARD syndrome. (PMID 14961557)
- Cited in: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (PMID 15121796)