rs762256045

This variant is located in the SQOR gene.

ClinVar annotation

Pathogenic
1 submitter1 publication

Sulfide quinone oxidoreductase deficiency

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About SQOR

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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