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CALCOCO2

Synonyms
NDP52
External resources
Summary
This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
1,565
Likely benign
1,147
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CALCOCO2 gene.

Phenotype class
Patients in 3billion (%)

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