rs397514600

This is a variant in the NOL3 gene that changes a glutamate to an glutamine.

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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters2 publications

Myoclonus, familial, 1 (MYOCL1)

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About NOL3

This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

View all NOL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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