rs756485376

This variant is located in the HRC gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

About HRC

This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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