rs376663359

This variant is located in the PLCH1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PLCH1

PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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