BNC1
basonuclin zinc finger protein 1
Summary
This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762812616 | 15:83,926,211 | G/C | — | uncertain significance |
| rs749980467 | 15:83,926,262 | G/A | — | uncertain significance |
| rs779309496 | 15:83,926,277 | A/C | — | uncertain significance |
| rs138921537 | 15:83,926,322 | G/A | — | uncertain significance |
| rs2038090244 | 15:83,926,333 | G/A | — | uncertain significance |
| rs2547953441 | 15:83,926,428 | C/G | — | uncertain significance |
| rs780371077 | 15:83,926,456 | A/C | — | uncertain significance |
| rs201066160 | 15:83,926,589 | T/A | — | uncertain significance |
| rs144960475 | 15:83,926,611 | C/G | — | likely benign |
| rs112355130 | 15:83,926,627 | C/T | — | uncertain significance |
| rs2547953716 | 15:83,926,628 | T/C | — | uncertain significance |
| rs377137350 | 15:83,926,711 | C/G | — | uncertain significance |
| rs139607641 | 15:83,926,792 | A/G | — | uncertain significance |
| rs201142132 | 15:83,926,805 | G/A | — | uncertain significance |
| rs115397783 | 15:83,926,820 | T/C | — | benign |
| rs373784768 | 15:83,931,719 | G/A | — | uncertain significance |
| rs760137127 | 15:83,931,730 | G/A | — | likely pathogenic |
| rs201815978 | 15:83,931,848 | G/A | — | uncertain significance |
| rs2547956743 | 15:83,931,860 | T/C | — | uncertain significance |
| rs146647716 | 15:83,931,925 | G/A | — | uncertain significance |
| rs527423780 | 15:83,931,973 | C/T | — | likely benign |
| rs141216491 | 15:83,932,037 | G/A | — | uncertain significance |
| rs199692589 | 15:83,932,042 | T/C | — | likely benign |
| rs144989978 | 15:83,932,078 | A/G | — | uncertain significance |
| rs2038169762 | 15:83,932,148 | C/T | — | uncertain significance |
| rs368320013 | 15:83,932,172 | G/T | — | uncertain significance |
| rs747070639 | 15:83,932,174 | T/C | — | uncertain significance |
| rs143724628 | 15:83,932,182 | C/A | — | uncertain significance |
| rs2038172469 | 15:83,932,250 | G/A | — | uncertain significance |
| rs1306477902 | 15:83,932,346 | T/C | — | uncertain significance |
| rs2547957410 | 15:83,932,435 | A/C | — | uncertain significance |
| rs373761816 | 15:83,932,496 | T/C | — | uncertain significance |
| rs2547957580 | 15:83,932,570 | A/G | — | uncertain significance |
| rs776803527 | 15:83,932,684 | C/G | — | uncertain significance |
| rs372084119 | 15:83,932,934 | C/T | — | uncertain significance |
| rs142462257 | 15:83,932,960 | T/C | — | likely benign |
| rs1167841325 | 15:83,932,972 | T/A | — | uncertain significance |
| rs138242526 | 15:83,933,029 | G/A | — | uncertain significance |
| rs758571019 | 15:83,933,212 | T/C | — | uncertain significance |
| rs1396322018 | 15:83,933,254 | T/C | — | uncertain significance |
| rs868059342 | 15:83,933,291 | T/C | — | uncertain significance |
| rs141173152 | 15:83,933,298 | G/C | — | uncertain significance |
| rs2547958384 | 15:83,933,323 | G/C | — | uncertain significance |
| rs755975424 | 15:83,933,378 | C/T | — | uncertain significance |
| rs139103889 | 15:83,933,427 | G/A | — | benign |
| rs781503388 | 15:83,933,432 | G/T | — | uncertain significance |
| rs2547958531 | 15:83,933,437 | T/C | — | uncertain significance |
| rs754868504 | 15:83,933,444 | C/T | — | uncertain significance |
| rs200222432 | 15:83,935,660 | T/G | — | uncertain significance |
| rs748941683 | 15:83,935,796 | A/G | — | uncertain significance |
| rs758900884 | 15:83,936,910 | T/G | — | uncertain significance |
| rs1326416410 | 15:83,936,930 | T/A | — | uncertain significance |
| rs189033558 | 15:83,941,932 | G/T | intron variant | — |
| rs55756182 | 15:83,946,160 | C/A | intron variant | — |
| rs762547342 | 15:83,953,311 | G/A | — | uncertain significance |
| rs922354410 | 15:83,953,334 | G/A | — | uncertain significance |
| rs553888762 | 15:83,953,339 | G/A | — | likely benign |
| rs941658958 | 15:83,953,343 | G/A | — | uncertain significance |
| rs534368275 | 15:83,954,031 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.