D37G (p.Asp37Gly) variant of CDKN1B (P46527)
D37G (p.Asp37Gly) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- rs2497404091
- ClinGen CA383968675
- ClinVar RCV002847740
- ClinVar RCV003167843
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)