T211I (p.Thr211Ile) variant of INSR (Insulin receptor)
T211I (p.Thr211Ile) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The record also includes published literature and structural context.
T211I (p.Thr211Ile) variant details
- p.Thr211Ile
- rs1967766760
- ClinGen CA403159040
- ClinVar RCV001172282
- Ensembl rs1967766760
- Pathogenic
- Leprechaunism syndrome
- Missense
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)