Q136E (p.Gln136Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
Q136E (p.Gln136Glu) 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.
Q136E (p.Gln136Glu) variant details
- p.Gln136Glu
- rs2511829513
- ClinGen CA398751567
- ClinVar RCV000787215
- UniProt VAR 046017
- 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: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. (PMID 15068978)
- Cited in: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of… (PMID 16249435)