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DPH7

Synonyms
C9orf112, RRT2, WDR85
External resources
Summary
Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide.

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
10,054
Likely benign
1,136
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DPH7 gene.

Phenotype class
Patients in 3billion (%)

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