Q21* (p.Gln21Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q21* (p.Gln21Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs2505865153
- ClinGen CA393731825
- ClinVar RCV003704497
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available