E37G (p.Glu37Gly) variant of PDE6B (P35913)
E37G (p.Glu37Gly) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2. The record also includes published literature and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- rs1208473466
- ClinGen CA355906178
- ClinVar RCV001151134
- ClinVar RCV001154204
- Uncertain significance
- Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa; Congenital stationary night blindness auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)