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COX19

Synonyms
-
External resources
Summary
COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).

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
2,113
Likely benign
51
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COX19 gene.

Phenotype class
Patients in 3billion (%)

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