Q197* (p.Gln197Ter) variant of RAD21 (O60216)
Q197* (p.Gln197Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
Q197* (p.Gln197Ter) variant details
- p.Gln197Ter
- rs1352385210
- ClinGen CA372006491
- ClinVar RCV001072118
- gnomAD rs1352385210
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cohesin complex-associated holoprosencephaly. (PMID 31334757)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)