rs760569679

This variant is located in the ACP5 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Spondyloenchondrodysplasia with immune dysregulation

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About ACP5

This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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