M1T (p.Met1Thr) variant of MEN1 (Menin)
M1T (p.Met1Thr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2497292377
- ClinGen CA381188342
- ClinVar RCV002435647
- Pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)