rs2145104416

This variant is located in the TERB1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters2 publications

Non-obstructive azoospermia; Spermatogenic failure 60

About TERB1

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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