I56T (p.Ile56Thr) variant of INSR (Insulin receptor)
I56T (p.Ile56Thr) in INSR (Insulin receptor) is a missense change. The available record places it in the context of Leprechaunism syndrome. The record also includes published literature and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- rs1555689937
- ClinGen CA403160537
- ClinVar RCV000599040
- UniProt VAR 079535
- not provided
- Leprechaunism syndrome
- Missense
- ClinVar: not provided (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Two novel mutations identified in familial cases with Donohue syndrome. (PMID 24498630)
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)