rs373003146

This variant is located in the MYO5B gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Congenital microvillous atrophy

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About MYO5B

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]

View all MYO5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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