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RFC2

Synonyms
RFC40
External resources
Summary
This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2.

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
19
Likely pathogenic
0
VUS
6,225
Likely benign
932
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on RFC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
26.3%
Abnormality of the ear
21.1%
Abnormality of the eye
15.8%
Abnormality of prenatal development or birth
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the digestive system
10.5%
Growth abnormality
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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%

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