Home > Gene Browser > REV3L
REV3L
- Synonyms
- POLZ, REV3
- External resources
- NCBI5980
- OMIM602776
- EnsemblENSG00000009413
- HGNCHGNC:9968
- Summary
- The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome.
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
- 7
- Likely pathogenic
- 0
- VUS
- 9,451
- Likely benign
- 5,528
- Benign
- 485
Patient phenotypes
Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on REV3L gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the ear
- 40%
- Abnormality of the eye
- 20%
- Abnormality of the nervous system
- 20%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of head or neck
- 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 cardiovascular system
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Growth abnormality
- 0%
- Neoplasm
- 0%
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