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RLBP1

Synonyms
CRALBP
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
3
VUS
1,337
Likely benign
937
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on RLBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
53.8%
Abnormality of the nervous system
30.8%
Abnormality of the musculoskeletal system
23.1%
Abnormality of the integument
15.4%
Abnormality of head or neck
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the immune system
7.7%
Constitutional symptom
7.7%
Growth abnormality
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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