rs150107007

This variant is located in the ACP5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter2 publications

Spondyloenchondrodysplasia with immune dysregulation

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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