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RFC4

Synonyms
A1, RFC37
External resources
Summary
The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported.

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
14
Likely pathogenic
0
VUS
8,202
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on RFC4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
36.4%
Abnormality of the cardiovascular system
27.3%
Abnormality of the ear
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormal cellular phenotype
9.1%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of the immune system
9.1%
Abnormality of the nervous system
9.1%
Neoplasm
9.1%
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 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%
Growth abnormality
0%

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