TERB1
telomere repeat binding bouquet formation protein 1
Summary
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]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1014978866 | 16:66,788,946 | C/T | — | uncertain significance |
| rs963945421 | 16:66,793,161 | G/A | — | pathogenic |
| rs8061964 | 16:66,797,854 | A/G | intron variant | — |
| rs757456 | 16:66,800,979 | A/C | intron variant | — |
| rs1181037767 | 16:66,801,355 | A/G | — | likely benign |
| rs2145104416 | 16:66,801,395 | G/C | — | pathogenic |
| rs769776492 | 16:66,803,884 | T/C | — | uncertain significance |
| rs749498682 | 16:66,803,953 | T/C | — | uncertain significance |
| rs778889310 | 16:66,804,112 | C/T | — | uncertain significance |
| rs200317788 | 16:66,804,115 | C/T | — | uncertain significance |
| rs1167140633 | 16:66,809,134 | T/C | — | uncertain significance |
| rs766256171 | 16:66,812,886 | C/T | — | pathogenic |
| rs16956948 | 16:66,814,760 | T/C | — | — |
| rs182937102 | 16:66,815,712 | C/T | intron variant | — |
| rs200583619 | 16:66,824,885 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.