I33N (p.Ile33Asn) variant of NBN (Nibrin)
I33N (p.Ile33Asn) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
I33N (p.Ile33Asn) variant details
- p.Ile33Asn
- rs2488369193
- ClinGen CA371663293
- ClinVar RCV002387463
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)