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RPL3L

Synonyms
CMD2D
External resources
Summary
This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome.

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
19
Likely pathogenic
0
VUS
4,780
Likely benign
3,077
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on RPL3L gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.4%
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
36.8%
Abnormality of head or neck
21.1%
Growth abnormality
21.1%
Abnormality of limbs
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the immune system
10.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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