rs533420972

This variant is located in the CPNE7 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About CPNE7

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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