N31H (p.Asn31His) variant of CDKN1B (P46527)
N31H (p.Asn31His) 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. The record also includes published literature and structural context.
N31H (p.Asn31His) variant details
- p.Asn31His
- rs2497404007
- ClinGen CA383968480
- ClinVar RCV003509443
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)