K16N (p.Lys16Asn) variant of CDC73 (Parafibromin)
K16N (p.Lys16Asn) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma. The record also includes published literature and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- rs2103111654
- ClinGen CA343972827
- ClinVar RCV002298356
- Uncertain significance
- Parathyroid carcinoma
- Missense
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)