A24D (p.Ala24Asp) variant of INS (Insulin)
A24D (p.Ala24Asp) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely risk allele in the context of Diabetes mellitus, permanent neonatal 4; not provided. The record also includes published literature and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- rs80356663
- ClinGen CA341284
- ClinVar RCV000014320
- ClinVar RCV001089455
- Pathogenic/Likely risk allele
- Diabetes mellitus, permanent neonatal 4; not provided
- Missense
- ClinVar: Pathogenic/Likely risk allele (Diabetes mellitus, permanent neonatal 4; not provided)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)