ClinVar Miner

Submissions for variant NM_014276.4(RBPJL):c.839C>T (p.Thr280Met) (rs200998587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch,National Institutes of Health RCV000626384 SCV000608401 risk factor Diabetes mellitus type 2 no assertion criteria provided case-control The variant allele associates with increased risk of T2D. In in-vtro studies the variant allele reduces protein expression and also effects tranactivation capability

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