rs773661299

This variant is located in the SDHC gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3

About SDHC

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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