H29D (p.His29Asp) variant of INS (Insulin)
H29D (p.His29Asp) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, permanent neonatal 4. The record also includes published literature and structural context.
H29D (p.His29Asp) variant details
- p.His29Asp
- rs121908272
- ClinGen CA266176
- ClinVar RCV000059615
- ClinVar RCV003445480
- Uncertain significance
- Diabetes mellitus, permanent neonatal 4
- Missense
- ClinVar: Uncertain significance (Diabetes mellitus, permanent neonatal 4)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)