D37N (p.Asp37Asn) variant of FLCN (Folliculin)
D37N (p.Asp37Asn) in FLCN (Folliculin) 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.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs2145047060
- ClinGen CA398535315
- ClinVar RCV002450625
- Ensembl rs2145047060
- 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)