rs769825641

This is a splice region variant variant in the SYCP3 gene.

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ClinVar annotation

Pathogenic
2 submitters1 publication

Spermatogenic failure 4

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Research that mentions this SNP (1)

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Vascular endothelial growth factor (VEGF) gene polymorphisms may influence the efficacy of thalidomide in multiple myeloma
AssociationN=237Niels F. Andersen et al.(2012)· International Journal of Cancer

This case-control association study examined genetic polymorphisms in 237 Russian women to identify variants associated with early reproductive loss and recurrent miscarriage. The study found that DNMT3B rs2424913 (OR=4.44-4.78), DNMT1 rs2228611 (OR=3.0-3.94), and DNMT1 rs8101626 (OR=2.5-3.1) were significantly associated with increased risk of sporadic and recurrent early pregnancy loss, while SYCP3 rs769825641 heterozygotes showed elevated risk of sporadic miscarriage.

Traits studied:Early pregnancy lossHabitual miscarriageRecurrent pregnancy lossSporadic miscarriage
PubMedDOIMetascience Observatory

About SYCP3

This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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