rs879255278

This is a variant in the PRDM6 gene that changes a arginine to an glutamine.

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ClinVar annotation

Pathogenic
1 submitter2 publications

Patent ductus arteriosus 3 (PDA3)

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About PRDM6

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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