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RECQL5

Synonyms
RECQ5
External resources
Summary
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found 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
36,352
Likely benign
3,796
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RECQL5 gene.

Phenotype class
Patients in 3billion (%)

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