S79* (p.Ser79Ter) variant of ATRX (Chromatin remodeler ATRX)
S79* (p.Ser79Ter) in ATRX (Chromatin remodeler ATRX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S79* (p.Ser79Ter) variant details
- p.Ser79Ter
- rs122445107
- ClinGen CA121651
- cosmic curated COSV64870
- ClinVar RCV000012507
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the… (PMID 12858175)