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PLRG1

Synonyms
Cwc1, PRL1, PRP46, PRPF46, TANGO4
External resources
Summary
This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
2,254
Likely benign
695
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PLRG1 gene.

Phenotype class
Patients in 3billion (%)

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