rs180861815

This variant is located in the MTAP gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

Diaphyseal medullary stenosis-bone malignancy syndrome

About MTAP

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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