L30S (p.Leu30Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L30S (p.Leu30Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
L30S (p.Leu30Ser) variant details
- p.Leu30Ser
- rs2511852918
- ClinGen CA398754638
- ClinVar RCV004555443
- Uncertain significance
- Renal cysts and diabetes syndrome
- Missense
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)