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DPY30

Synonyms
Cps25, HDPY-30, Saf19
External resources
Summary
This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells.

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
1,160
Likely benign
25
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DPY30 gene.

Phenotype class
Patients in 3billion (%)

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