rs1157855665

This variant is located in the COA8 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

About COA8

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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