TTC29
tetratricopeptide repeat domain 29
Summary
Involved in cilium movement and cilium organization. Located in sperm flagellum. Implicated in spermatogenic failure 42. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1579486914 | 4:147,627,976 | C/T | — | pathogenic |
| rs1742016567 | 4:147,628,338 | A/G | — | uncertain significance |
| rs201238305 | 4:147,628,656 | G/A | — | uncertain significance |
| rs756050588 | 4:147,724,711 | G/T | — | uncertain significance |
| rs748810679 | 4:147,724,717 | T/C | — | uncertain significance |
| rs773446493 | 4:147,724,782 | T/G | — | uncertain significance |
| rs1489738488 | 4:147,724,832 | G/C | stop gained | pathogenic |
| rs770355496 | 4:147,741,347 | G/A | — | uncertain significance |
| rs774455160 | 4:147,741,377 | A/T | — | uncertain significance |
| rs200264302 | 4:147,741,386 | G/C | — | uncertain significance |
| rs750317836 | 4:147,741,391 | C/G | — | uncertain significance |
| rs13143615 | 4:147,742,589 | T/A | intron variant | — |
| rs1579787268 | 4:147,754,957 | C/A | — | pathogenic |
| rs143005058 | 4:147,754,995 | C/T | — | conflicting classifications of pathogenicity |
| rs9992506 | 4:147,771,978 | T/C | — | — |
| rs369571582 | 4:147,788,684 | T/C | — | conflicting classifications of pathogenicity |
| rs202093090 | 4:147,795,873 | T/C | — | uncertain significance |
| rs773517202 | 4:147,795,913 | G/A | — | likely pathogenic |
| rs763399136 | 4:147,795,917 | G/T | stop gained | pathogenic |
| rs201549008 | 4:147,796,023 | C/T | — | uncertain significance |
| rs13110073 | 4:147,797,913 | T/A | — | — |
| rs28497709 | 4:147,799,046 | A/G | intron variant | — |
| rs34216058 | 4:147,811,445 | C/T | intron variant | — |
| rs377740137 | 4:147,824,731 | G/A | — | uncertain significance |
| rs756757387 | 4:147,824,794 | T/C | — | uncertain significance |
| rs766068229 | 4:147,830,225 | T/A | — | uncertain significance |
| rs376367844 | 4:147,830,226 | C/A | — | uncertain significance |
| rs766352190 | 4:147,830,244 | — | — | pathogenic |
| rs201837176 | 4:147,830,322 | C/G | — | uncertain significance |
| rs372228856 | 4:147,830,345 | T/C | — | uncertain significance |
| rs1995809 | 4:147,844,424 | A/C | — | — |
| rs76715876 | 4:147,858,745 | C/T | splice region variant | pathogenic |
| rs745408204 | 4:147,858,759 | C/T | — | uncertain significance |
| rs2531595715 | 4:147,858,788 | A/G | — | uncertain significance |
| rs370260084 | 4:147,861,013 | G/A | — | uncertain significance |
| rs184542607 | 4:147,861,051 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.