L35Q (p.Leu35Gln) variant of INS (Insulin)
L35Q (p.Leu35Gln) in INS (Insulin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely risk allele in the context of Diabetes mellitus, permanent neonatal 4. The record also includes published literature and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- rs121908273
- ClinGen CA379121761
- ClinVar RCV003445452
- Ensembl rs121908273
- Likely risk allele
- Diabetes mellitus, permanent neonatal 4
- Missense
- ClinVar: Likely risk allele (Diabetes mellitus, permanent neonatal 4)
- UniProt: Likely risk allele (in PNDM4)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)