C85F (p.Cys85Phe) variant of CRB1 (Protein crumbs homolog 1)
C85F (p.Cys85Phe) 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.
C85F (p.Cys85Phe) variant details
- p.Cys85Phe
- rs1553249226
- ClinGen CA344085376
- ClinVar RCV002908038
- 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)