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RAG1

Synonyms
RAG-1, RNF74
External resources
Summary
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
8
Likely pathogenic
9
VUS
644
Likely benign
450
Benign
199

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on RAG1 gene are displayed below. The following symptoms were found in patients with a variant in RAG1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
29.4%
Abnormality of the nervous system
29.4%
Abnormality of the digestive system
23.5%
Abnormality of the immune system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of the ear
11.8%
Abnormality of the eye
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of head or neck
5.9%
Abnormality of metabolism homeostasis
5.9%
Abnormality of prenatal development or birth
5.9%
Abnormality of the integument
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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