Q29* (p.Gln29Ter) variant of MUTYH (Adenine DNA glycosylase)
Q29* (p.Gln29Ter) in MUTYH (Adenine DNA glycosylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs768386527
- ClinGen CA058129
- ClinVar RCV000671051
- ClinVar RCV000773209
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)