rs2534821138

This variant is located in the JAZF1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About JAZF1

This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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