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KHDRBS1

Synonyms
Sam68, p62, p68
External resources
Summary
This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. 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
1,140
Likely benign
101
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KHDRBS1 gene.

Phenotype class
Patients in 3billion (%)

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