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

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
0
Likely pathogenic
0
VUS
23,293
Likely benign
11,288
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHTF18 gene.

Phenotype class
Patients in 3billion (%)

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