K28* (p.Lys28Ter) variant of MUTYH (Adenine DNA glycosylase)
K28* (p.Lys28Ter) in MUTYH (Adenine DNA glycosylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K28* (p.Lys28Ter) variant details
- p.Lys28Ter
- rs2524361370
- ClinGen CA340137165
- ClinVar RCV002430325
- ClinVar RCV005097213
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)