Q80L (p.Gln80Leu) variant of CRB1 (Protein crumbs homolog 1)
Q80L (p.Gln80Leu) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8. The record also includes published literature and structural context.
Q80L (p.Gln80Leu) variant details
- p.Gln80Leu
- rs1658660906
- ClinGen CA344085344
- ClinVar RCV001343065
- Ensembl rs1658660906
- Uncertain significance
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)