G28N (p.Gly28Asn) variant of MEN1 (Menin)
G28N (p.Gly28Asn) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1. The record also includes published literature and structural context.
G28N (p.Gly28Asn) variant details
- p.Gly28Asn
- rs2497287226
- ClinGen CA2580084457
- ClinVar RCV003011805
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)