A13* (p.Ala13Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A13* (p.Ala13Ter) in RECQL4 (ATP-dependent DNA helicase Q4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A13* (p.Ala13Ter) variant details
- p.Ala13Ter
- rs2130746001
- ClinGen CA2499219204
- ClinVar RCV001381497
- Ensembl rs2130746001
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)