PROM1
prominin 1
Summary
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants837 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886059194 | 4:15,969,856 | T/C | — | uncertain significance |
| rs543722299 | 4:15,969,867 | T/C | — | uncertain significance |
| rs544424652 | 4:15,969,873 | T/G | — | uncertain significance |
| rs3130 | 4:15,969,938 | T/C | 3 prime UTR variant | benign |
| rs886059195 | 4:15,969,946 | T/C | — | uncertain significance |
| rs577484119 | 4:15,969,964 | C/T | — | conflicting classifications of pathogenicity |
| rs937617123 | 4:15,970,031 | G/C | — | uncertain significance |
| rs886059196 | 4:15,970,053 | T/C | — | uncertain significance |
| rs7686732 | 4:15,970,201 | G/T | — | — |
| rs1713636052 | 4:15,970,235 | C/T | — | uncertain significance |
| rs140362696 | 4:15,970,332 | G/A | — | conflicting classifications of pathogenicity |
| rs947805890 | 4:15,970,335 | G/C | — | uncertain significance |
| rs2240688 | 4:15,970,349 | T/G | 3 prime UTR variant | benign |
| rs1713667197 | 4:15,970,376 | A/T | — | uncertain significance |
| rs1250583925 | 4:15,970,436 | A/T | — | uncertain significance |
| rs886059197 | 4:15,970,465 | T/A | — | uncertain significance |
| rs1713762475 | 4:15,970,818 | A/G | — | uncertain significance |
| rs537324748 | 4:15,970,827 | T/C | — | uncertain significance |
| rs1024479425 | 4:15,970,909 | C/A | — | uncertain significance |
| rs778935197 | 4:15,972,692 | A/C | — | uncertain significance |
| rs748272325 | 4:15,972,695 | G/T | — | uncertain significance |
| rs566891826 | 4:15,972,698 | G/A | — | uncertain significance |
| rs1300537750 | 4:15,972,704 | G/C | — | uncertain significance |
| rs569107838 | 4:15,977,781 | A/G | intron variant | — |
| rs11725522 | 4:15,980,975 | G/A | — | benign |
| rs1486273450 | 4:15,981,002 | C/T | — | likely benign |
| rs200033458 | 4:15,981,009 | T/G | — | conflicting classifications of pathogenicity |
| rs2149032095 | 4:15,981,010 | T/G | — | likely benign |
| rs373688106 | 4:15,981,021 | G/A | — | uncertain significance |
| rs747844753 | 4:15,981,022 | T/C | — | conflicting classifications of pathogenicity |
| rs1241742160 | 4:15,981,024 | A/T | — | uncertain significance |
| rs2474848890 | 4:15,981,025 | T/C | — | uncertain significance |
| rs1293714106 | 4:15,981,028 | C/A | — | uncertain significance |
| rs772737866 | 4:15,981,045 | T/C | — | uncertain significance |
| rs760109948 | 4:15,981,047 | T/C | — | likely benign |
| rs201910962 | 4:15,981,049 | C/T | — | conflicting classifications of pathogenicity |
| rs1560386259 | 4:15,981,051 | T/C | — | uncertain significance |
| rs1717173462 | 4:15,981,053 | A/T | — | uncertain significance |
| rs759487438 | 4:15,981,055 | C/T | — | uncertain significance |
| rs1717178592 | 4:15,981,060 | T/C | — | uncertain significance |
| rs2474850479 | 4:15,981,063 | T/G | — | uncertain significance |
| rs1012374414 | 4:15,981,066 | C/A | — | uncertain significance |
| rs2474850758 | 4:15,981,069 | T/C | — | uncertain significance |
| rs752489889 | 4:15,981,079 | T/C | — | uncertain significance |
| rs758726922 | 4:15,981,084 | A/G | — | uncertain significance |
| rs2149032694 | 4:15,981,085 | T/C | — | uncertain significance |
| rs1236769724 | 4:15,981,090 | T/C | — | conflicting classifications of pathogenicity |
| rs372124362 | 4:15,981,098 | A/G | — | likely benign |
| rs1577792083 | 4:15,981,485 | T/C | — | likely benign |
| rs1454799629 | 4:15,981,493 | A/T | — | likely benign |
| rs2474864275 | 4:15,981,500 | T/G | — | uncertain significance |
| rs1212167770 | 4:15,981,501 | T/A | — | uncertain significance |
| rs2474864464 | 4:15,981,504 | T/A | — | uncertain significance |
| rs534529507 | 4:15,981,509 | C/T | — | uncertain significance |
| rs1425845647 | 4:15,981,516 | A/G | — | uncertain significance |
| rs372496187 | 4:15,981,517 | T/C | — | uncertain significance |
| rs375813885 | 4:15,981,529 | T/C | — | conflicting classifications of pathogenicity |
| rs1717321830 | 4:15,981,534 | A/G | — | likely benign |
| rs1404233284 | 4:15,981,538 | C/T | — | likely benign |
| rs761806005 | 4:15,981,544 | A/G | — | likely benign |
| rs1341829152 | 4:15,981,545 | G/A | — | likely benign |
| rs2474866969 | 4:15,981,547 | G/A | — | likely benign |
| rs370154531 | 4:15,982,025 | G/A | — | likely benign |
| rs752012414 | 4:15,982,026 | T/C | — | likely benign |
| rs2474887611 | 4:15,982,027 | G/A | — | likely benign |
| rs1176549155 | 4:15,982,032 | C/T | — | likely benign |
| rs1405241445 | 4:15,982,036 | C/T | — | likely benign |
| rs1433533825 | 4:15,982,037 | A/G | — | uncertain significance |
| rs775630400 | 4:15,982,038 | T/C | — | likely benign |
| rs2474888258 | 4:15,982,044 | C/T | — | pathogenic |
| rs146434364 | 4:15,982,049 | C/T | — | conflicting classifications of pathogenicity |
| rs768616945 | 4:15,982,050 | G/A | — | likely benign |
| rs1423192339 | 4:15,982,053 | C/T | — | likely benign |
| rs886059198 | 4:15,982,054 | A/G | — | uncertain significance |
| rs866191488 | 4:15,982,055 | C/T | — | uncertain significance |
| rs774262417 | 4:15,982,056 | G/A | — | likely benign |
| rs1333833629 | 4:15,982,058 | C/G | — | likely pathogenic |
| rs372746499 | 4:15,982,062 | C/T | — | likely benign |
| rs575302651 | 4:15,982,063 | G/A | — | uncertain significance |
| rs982406072 | 4:15,982,070 | T/C | — | uncertain significance |
| rs370736469 | 4:15,982,072 | C/T | — | uncertain significance |
| rs766357803 | 4:15,982,073 | G/A | — | pathogenic |
| rs755446696 | 4:15,982,076 | G/A | — | uncertain significance |
| rs912618452 | 4:15,982,078 | T/C | — | uncertain significance |
| rs147880953 | 4:15,982,080 | G/A | — | benign |
| rs1717530316 | 4:15,982,081 | T/C | — | uncertain significance |
| rs1231060253 | 4:15,982,084 | T/C | — | uncertain significance |
| rs368515078 | 4:15,982,088 | C/G | — | uncertain significance |
| rs766577396 | 4:15,982,098 | C/T | — | likely benign |
| rs371444761 | 4:15,982,099 | G/A | — | uncertain significance |
| rs1168993426 | 4:15,982,113 | C/T | — | uncertain significance |
| rs2474892770 | 4:15,982,115 | G/A | — | uncertain significance |
| rs1717540258 | 4:15,982,119 | T/A | — | uncertain significance |
| rs757702736 | 4:15,982,126 | A/G | — | uncertain significance |
| rs2474893593 | 4:15,982,127 | C/A | — | uncertain significance |
| rs1461675875 | 4:15,982,133 | C/T | — | uncertain significance |
| rs931618095 | 4:15,982,137 | T/C | — | uncertain significance |
| rs200008077 | 4:15,982,141 | A/G | — | uncertain significance |
| rs376134203 | 4:15,982,147 | A/T | — | uncertain significance |
| rs1270591286 | 4:15,982,150 | C/A | — | uncertain significance |
Showing 100 of 837 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.