H153N (p.His153Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
H153N (p.His153Asn) 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.
H153N (p.His153Asn) variant details
- p.His153Asn
- rs2511829092
- ClinGen CA398751379
- ClinVar RCV000787206
- UniProt VAR 046021
- 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: Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an… (PMID 15001636)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)