N289D (p.Asn289Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
N289D (p.Asn289Asp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal. The record also includes published literature and structural context.
N289D (p.Asn289Asp) variant details
- p.Asn289Asp
- rs2511801868
- ClinGen CA398746927
- ClinVar RCV000787125
- ClinVar RCV002493434
- Pathogenic/Likely pathogenic
- Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Non)
- 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)