rs753320749

This variant is located in the BIRC5 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About BIRC5

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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