Q45* (p.Gln45Ter) variant of MUTYH (Adenine DNA glycosylase)
Q45* (p.Gln45Ter) 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.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs2524353808
- ClinGen CA340137008
- ClinVar RCV003049772
- NCI-TCGA TCGA novel
- 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)