M1? variant of POT1 (Q9NUX5)
M1? in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
M1? variant details
- rs1584510207
- ClinGen CA369066378
- NCI-TCGA Cosmic COSV6292
- Pathogenic
- Missense
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)