rs755186565

This variant is located in the PEF1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PEF1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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