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CISD1

Synonyms
C10orf70, MDS029, ZCD1, mitoNEET
External resources
Summary
This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2.

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
1,536
Likely benign
22
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CISD1 gene.

Phenotype class
Patients in 3billion (%)

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