ClinVar Miner

Submissions for variant NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser)

gnomAD frequency: 0.00001  dbSNP: rs368138379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Development and Health, University of Southampton RCV001782884 SCV000485069 association Inflammatory bowel disease 1 2016-08-06 no assertion criteria provided research HSPA1L Dominant negative effects - Our results indicate that de novo and rare mutations in HSPA1L are associated with IBD and provide insights into the pathogenesis of IBD

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