ClinVar Miner

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

gnomAD frequency: 0.00041  dbSNP: 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 Type 2 diabetes mellitus 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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