rs387906670

This is a variant in the ACP5 gene that changes a methionine to an lysine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters6 publications

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)

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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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