PAX7
paired box 7
Summary
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766325 | 1:18,956,458 | G/A | upstream gene variant | — |
| rs144835222 | 1:18,958,118 | G/T | — | likely benign |
| rs1570098248 | 1:18,960,796 | G/A | — | pathogenic |
| rs372604920 | 1:18,960,804 | C/T | — | likely benign |
| rs145325556 | 1:18,960,806 | C/T | — | uncertain significance |
| rs1351630881 | 1:18,960,823 | G/T | — | uncertain significance |
| rs1392068839 | 1:18,960,877 | C/T | — | pathogenic |
| rs2521556465 | 1:18,960,900 | C/A | — | likely benign |
| rs1476493262 | 1:18,960,912 | C/G | — | uncertain significance |
| rs1176071790 | 1:18,960,931 | C/T | — | pathogenic |
| rs567904259 | 1:18,960,940 | C/T | — | uncertain significance |
| rs776487181 | 1:18,960,987 | G/A | — | likely benign |
| rs1393523766 | 1:18,960,998 | T/C | — | uncertain significance |
| rs550466055 | 1:18,961,002 | G/A | — | likely benign |
| rs745409821 | 1:18,961,018 | G/A | — | uncertain significance |
| rs142754204 | 1:18,961,618 | C/T | — | uncertain significance |
| rs371150760 | 1:18,961,619 | G/A | — | likely benign |
| rs764601304 | 1:18,961,620 | G/A | — | uncertain significance |
| rs765933792 | 1:18,961,625 | A/G | — | likely benign |
| rs1427053032 | 1:18,961,681 | T/C | — | uncertain significance |
| rs72937282 | 1:18,961,691 | G/A | — | benign |
| rs752326328 | 1:18,961,716 | C/T | — | pathogenic |
| rs755821765 | 1:18,961,717 | G/A | — | uncertain significance |
| rs372598486 | 1:18,962,816 | C/A | — | uncertain significance |
| rs142590581 | 1:18,962,858 | C/A | — | likely benign |
| rs56675509 | 1:18,971,634 | G/A | — | — |
| rs742071 | 1:18,979,874 | G/T | regulatory region variant | — |
| rs140068450 | 1:18,981,408 | G/A | intron variant | — |
| rs184713663 | 1:18,988,487 | G/A | intron variant | — |
| rs2236835 | 1:18,990,251 | G/T | — | — |
| rs751430756 | 1:19,018,240 | G/A | — | uncertain significance |
| rs188580087 | 1:19,018,249 | G/A | — | likely benign |
| rs759283359 | 1:19,018,254 | G/T | — | uncertain significance |
| rs201602654 | 1:19,018,263 | A/G | — | uncertain significance |
| rs200575057 | 1:19,018,305 | G/A | — | uncertain significance |
| rs2521887039 | 1:19,018,312 | G/A | — | likely benign |
| rs149936197 | 1:19,018,315 | A/C | — | benign |
| rs2089074781 | 1:19,018,316 | C/T | — | uncertain significance |
| rs144928234 | 1:19,018,340 | G/A | — | uncertain significance |
| rs147079707 | 1:19,018,364 | G/A | — | uncertain significance |
| rs772017159 | 1:19,018,400 | C/T | — | uncertain significance |
| rs150824825 | 1:19,018,438 | G/A | — | benign |
| rs34360058 | 1:19,027,167 | C/T | — | benign |
| rs2743201 | 1:19,027,239 | A/G | — | benign |
| rs150935650 | 1:19,027,257 | G/A | — | likely benign |
| rs2089209164 | 1:19,027,265 | C/A | — | uncertain significance |
| rs2521935160 | 1:19,027,267 | T/C | — | uncertain significance |
| rs374991984 | 1:19,027,278 | G/A | — | likely benign |
| rs544225459 | 1:19,027,280 | A/G | — | uncertain significance |
| rs1043814598 | 1:19,029,591 | G/C | — | uncertain significance |
| rs1437320339 | 1:19,029,646 | C/A | — | likely benign |
| rs2089246022 | 1:19,029,793 | A/G | — | likely benign |
| rs2841099 | 1:19,029,799 | T/C | — | benign |
| rs2236824 | 1:19,032,272 | G/A | — | — |
| rs138918372 | 1:19,062,155 | G/A | — | likely benign |
| rs149436157 | 1:19,062,163 | C/T | — | uncertain significance |
| rs144861509 | 1:19,062,204 | G/A | — | uncertain significance |
| rs1268130256 | 1:19,062,205 | G/A | — | uncertain significance |
| rs2522123125 | 1:19,062,225 | A/G | — | uncertain significance |
| rs371958619 | 1:19,062,247 | G/C | — | uncertain significance |
| rs145120435 | 1:19,062,345 | G/A | — | uncertain significance |
| rs201148507 | 1:19,062,349 | A/G | — | uncertain significance |
| rs144242911 | 1:19,062,362 | G/C | — | uncertain significance |
| rs143552197 | 1:19,062,365 | C/T | — | likely benign |
| rs777062997 | 1:19,062,395 | G/A | — | likely benign |
| rs762116733 | 1:19,062,401 | C/T | — | likely benign |
| rs2089707834 | 1:19,062,430 | C/A | — | uncertain significance |
| rs753545803 | 1:19,062,444 | A/G | — | likely benign |
| rs200915274 | 1:19,062,446 | G/A | — | uncertain significance |
| rs2089708295 | 1:19,062,463 | T/G | — | uncertain significance |
| rs762171632 | 1:19,062,478 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.