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DHX8

Synonyms
DDX8, Dhr2, HRH1, PRP22, PRPF22
External resources
Summary
This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants.

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
20,413
Likely benign
2,784
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DHX8 gene.

Phenotype class
Patients in 3billion (%)

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