rs772819905

This variant is located in the OGDHL gene.

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ClinVar annotation

Uncertain Significance
1 submitter2 publications

Yoon-Bellen neurodevelopmental syndrome

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About OGDHL

The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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