P256S (p.Pro256Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P256S (p.Pro256Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Renal cysts and diabetes syndrome. The record also includes published literature and structural context.
P256S (p.Pro256Ser) variant details
- p.Pro256Ser
- rs2511808635
- ClinGen CA398748144
- ClinVar RCV000787148
- ClinVar RCV000993282
- Likely pathogenic
- not provided; Renal cysts and diabetes syndrome
- Missense
- ClinVar: Likely pathogenic (not provided; Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)