K156E (p.Lys156Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K156E (p.Lys156Glu) 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.
K156E (p.Lys156Glu) variant details
- p.Lys156Glu
- rs2511828996
- ClinGen CA398751347
- ClinVar RCV000787204
- UniProt VAR 046022
- Pathogenic
- Renal cysts and diabetes syndrome
- Missense
- ClinVar: Pathogenic (Renal cysts and diabetes syndrome)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. (PMID 24204001)