SYCP3 Chromosome 12

Synaptonemal complex protein 3

3 variants 3 Health Risk

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What This Gene Does

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]

Associated Conditions (2)

Spermatogenic failure 4

Gastric cancer

Key Variants

RS587776620

Pathogenic

Spermatogenic failure 4, Spermatogenic failure 4

Health Risk

RS761136347

Pathogenic

Spermatogenic failure 4, Spermatogenic failure 4

Health Risk

RS769825641

Pathogenic

Spermatogenic failure 4, Gastric cancer, Spermatogenic failure 4

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS587776620	Health Risk	Pathogenic	Spermatogenic failure 4, Spermatogenic failure 4
RS761136347	Health Risk	Pathogenic	Spermatogenic failure 4, Spermatogenic failure 4
RS769825641	Health Risk	Pathogenic	Spermatogenic failure 4, Gastric cancer, Spermatogenic failure 4