Home > Gene Browser > CHTF18

CHTF18

Synonyms
C16orf41, C321D2.2, C321D2.3, C321D2.4, CHL12, Ctf18, RUVBL
External resources
Summary
This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition.

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
40
Likely pathogenic
1
VUS
44,514
Likely benign
1,248
Benign
0

Patient phenotypes

Proportions of phenotypes among 40 patients carring pathogenic or likely pathogenic variants on CHTF18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
17.5%
Abnormality of the eye
17.5%
Growth abnormality
17.5%
Abnormality of the cardiovascular system
15%
Abnormality of the integument
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of limbs
5%
Abnormality of the ear
5%
Constitutional symptom
5%
Abnormality of prenatal development or birth
2.5%
Abnormality of the digestive system
2.5%
Abnormality of the genitourinary system
2.5%
Abnormality of the immune system
2.5%
Abnormality of the respiratory system
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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