rs766672622
This variant is located in the RLBP1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout RLBP1
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
View all RLBP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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