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DPH3

Synonyms
DELGIP, DELGIP1, DESR1, DPH3A, KTI11, ZCSL2
External resources
Summary
This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform.

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
994
Likely benign
27
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DPH3 gene.

Phenotype class
Patients in 3billion (%)

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