R29* (p.Arg29Ter) variant of CNGA1 (P29973)
R29* (p.Arg29Ter) in CNGA1 (P29973) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- rs199636364
- ClinGen CA2911393
- cosmic curated COSV62054
- ClinVar RCV000662351
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)