rs181649252

This variant is located in the PPM1K gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Maple syrup urine disease, mild variant; not specified

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About PPM1K

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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