ClinVar Miner

Submissions for variant NC_000012.12:g.57768302G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital RCV003318421 SCV003761517 likely risk allele Vitamin D-dependent rickets, type 1A 2020-02-27 no assertion criteria provided research CYP27B1 is the coding gene for 1alpha-hydroxylase enzyme. This enzyme is changed calcidiol into calcitriol. One of the functions of calcitriol is anti-inflammatory

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