M160V (p.Met160Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
M160V (p.Met160Val) 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 not provided; Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
M160V (p.Met160Val) variant details
- p.Met160Val
- rs2511828837
- ClinGen CA398751307
- ClinVar RCV000787199
- ClinVar RCV001869186
- Pathogenic/Likely pathogenic
- not provided; Renal cysts and diabetes syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)