rs771834344

This variant is located in the MTMR14 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

About MTMR14

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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