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DZANK1

Synonyms
ANKRD64, C20orf12, C20orf84
External resources
Summary
This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains.

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
8,811
Likely benign
3,658
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DZANK1 gene.

Phenotype class
Patients in 3billion (%)

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