S151P (p.Ser151Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S151P (p.Ser151Pro) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
S151P (p.Ser151Pro) variant details
- p.Ser151Pro
- rs2511829158
- ClinGen CA398751403
- ClinVar RCV000787208
- UniProt VAR 046020
- Likely pathogenic
- Renal cysts and diabetes syndrome
- Missense
- ClinVar: Likely pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta… (PMID 11918730)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)