L136Q (p.Leu136Gln) variant of PKD1 (Polycystin-1)
L136Q (p.Leu136Gln) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
L136Q (p.Leu136Gln) variant details
- p.Leu136Gln
- rs2544883206
- ClinGen CA394395586
- ClinVar RCV002289352
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)