rs373328681

This is a stop gained variant in the NT5E gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Hereditary arterial and articular multiple calcification syndrome

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About NT5E

The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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