rs62064657
This variant is located in the PLEKHM1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout PLEKHM1
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
View all PLEKHM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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