N133S (p.Asn133Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
N133S (p.Asn133Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- rs2511829602
- ClinGen CA398751597
- ClinVar RCV000787217
- Pathogenic
- Renal cysts and diabetes syndrome
- Missense
- ClinVar: Pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)