Q15* (p.Gln15Ter) variant of USH2A (Usherin)
Q15* (p.Gln15Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- rs1553258122
- ClinGen CA344905143
- ClinVar RCV000670151
- ClinVar RCV001855538
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)