PRNP
prion protein (Kanno blood group)
Summary
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Known Variants150 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2756271 | 20:4,665,262 | A/T | — | — |
| rs57633656 | 20:4,666,109 | T/G | upstream gene variant | — |
| rs765471807 | 20:4,666,859 | T/A | — | uncertain significance |
| rs13040327 | 20:4,666,924 | C/G | — | benign |
| rs886056739 | 20:4,666,958 | G/A | — | uncertain significance |
| rs886056740 | 20:4,666,963 | C/G | — | uncertain significance |
| rs886056741 | 20:4,667,147 | C/G | — | uncertain significance |
| rs886056742 | 20:4,667,148 | G/T | — | uncertain significance |
| rs537449340 | 20:4,667,151 | C/T | — | benign |
| rs6107516 | 20:4,677,092 | G/A | intron variant | — |
| rs78236631 | 20:4,679,836 | G/A | — | benign |
| rs748227837 | 20:4,679,871 | C/T | — | conflicting classifications of pathogenicity |
| rs1405257982 | 20:4,679,872 | G/A | — | likely benign |
| rs368154579 | 20:4,679,916 | G/C | — | uncertain significance |
| rs548116564 | 20:4,679,920 | C/T | — | likely benign |
| rs1490413413 | 20:4,679,923 | G/A | — | likely benign |
| rs146939732 | 20:4,679,940 | G/A | — | uncertain significance |
| rs11538755 | 20:4,679,942 | C/G | — | uncertain significance |
| rs756969320 | 20:4,679,944 | G/A | — | likely benign |
| rs989264799 | 20:4,679,952 | G/A | — | uncertain significance |
| rs2514371918 | 20:4,679,954 | G/A | — | uncertain significance |
| rs1313855686 | 20:4,679,976 | G/A | — | uncertain significance |
| rs747019990 | 20:4,679,982 | C/T | — | conflicting classifications of pathogenicity |
| rs771206868 | 20:4,679,983 | G/A | — | likely benign |
| rs202102378 | 20:4,679,986 | G/A | — | benign |
| rs2514372230 | 20:4,680,004 | C/T | — | likely benign |
| rs945136467 | 20:4,680,009 | G/A | — | conflicting classifications of pathogenicity |
| rs776188950 | 20:4,680,025 | C/T | — | likely benign |
| rs763524380 | 20:4,680,026 | G/A | — | likely benign |
| rs1386720703 | 20:4,680,046 | T/C | — | uncertain significance |
| rs750069679 | 20:4,680,064 | G/A | — | uncertain significance |
| rs532493114 | 20:4,680,070 | T/C | — | benign |
| rs1247563362 | 20:4,680,072 | A/T | — | uncertain significance |
| rs1209553535 | 20:4,680,080 | G/C | — | uncertain significance |
| rs776922173 | 20:4,680,091 | G/A | — | likely benign |
| rs112637437 | 20:4,680,094 | C/T | — | likely benign |
| rs62643364 | 20:4,680,112 | A/G | — | benign |
| rs62637686 | 20:4,680,118 | T/C | — | benign |
| rs2514373224 | 20:4,680,144 | G/A | — | uncertain significance |
| rs1922418945 | 20:4,680,152 | C/G | — | uncertain significance |
| rs56362942 | 20:4,680,156 | G/A | — | uncertain significance |
| rs74315401 | 20:4,680,171 | C/T | missense variant | pathogenic |
| rs370426100 | 20:4,680,172 | G/A | — | likely benign |
| rs74315414 | 20:4,680,179 | C/A | missense variant | pathogenic |
| rs11538758 | 20:4,680,180 | C/T | missense variant | pathogenic |
| rs772899097 | 20:4,680,199 | C/T | — | likely benign |
| rs74315402 | 20:4,680,216 | C/T | missense variant | pathogenic |
| rs8124214 | 20:4,680,217 | G/A | — | benign |
| rs757409258 | 20:4,680,232 | G/T | — | likely benign |
| rs201423990 | 20:4,680,238 | C/G | — | likely benign |
| rs267606980 | 20:4,680,246 | G/T | missense variant | protective |
| rs1799990 | 20:4,680,251 | A/G | missense variant | pathogenic |
| rs74315410 | 20:4,680,258 | G/T | missense variant | pathogenic |
| rs772735889 | 20:4,680,259 | A/G | — | likely benign |
| rs74315415 | 20:4,680,264 | C/T | missense variant | pathogenic |
| rs1922434948 | 20:4,680,268 | G/C | — | uncertain significance |
| rs145555096 | 20:4,680,273 | G/C | — | uncertain significance |
| rs146315846 | 20:4,680,274 | G/T | — | uncertain significance |
| rs977801755 | 20:4,680,280 | C/G | — | uncertain significance |
| rs1555782056 | 20:4,680,281 | A/G | — | uncertain significance |
| rs764920854 | 20:4,680,289 | C/T | — | likely benign |
| rs150351644 | 20:4,680,290 | G/A | — | likely benign |
| rs1358174528 | 20:4,680,298 | C/G | — | uncertain significance |
| rs80356710 | 20:4,680,301 | T/G | stop gained | pathogenic |
| rs1436968066 | 20:4,680,307 | C/T | — | likely benign |
| rs181348299 | 20:4,680,309 | G/A | — | likely pathogenic |
| rs755417301 | 20:4,680,317 | C/T | — | uncertain significance |
| rs779113268 | 20:4,680,318 | G/T | — | uncertain significance |
| rs144302267 | 20:4,680,328 | G/A | — | uncertain significance |
| rs1323478206 | 20:4,680,333 | G/A | — | uncertain significance |
| rs2514374005 | 20:4,680,339 | C/T | — | uncertain significance |
| rs80356711 | 20:4,680,344 | C/T | stop gained | pathogenic |
| rs1922447173 | 20:4,680,346 | A/G | — | likely benign |
| rs746526977 | 20:4,680,349 | G/A | — | likely benign |
| rs921542806 | 20:4,680,353 | T/C | — | uncertain significance |
| rs1555782101 | 20:4,680,355 | C/G | — | pathogenic |
| rs770422749 | 20:4,680,359 | C/T | — | uncertain significance |
| rs1419618560 | 20:4,680,363 | T/C | — | uncertain significance |
| rs745480639 | 20:4,680,364 | G/A | — | uncertain significance |
| rs1057343224 | 20:4,680,371 | T/C | — | uncertain significance |
| rs769447986 | 20:4,680,373 | C/T | — | likely benign |
| rs16990018 | 20:4,680,378 | A/G | missense variant | uncertain significance |
| rs149726579 | 20:4,680,385 | C/T | — | likely benign |
| rs200294214 | 20:4,680,397 | C/T | — | likely benign |
| rs74315403 | 20:4,680,398 | G/A | missense variant | pathogenic |
| rs755183662 | 20:4,680,403 | C/T | — | likely benign |
| rs74315408 | 20:4,680,404 | G/A | missense variant | pathogenic |
| rs753015009 | 20:4,680,412 | C/G | — | uncertain significance |
| rs74315411 | 20:4,680,413 | A/G | missense variant | pathogenic |
| rs74315413 | 20:4,680,426 | A/G | missense variant | pathogenic |
| rs372878791 | 20:4,680,429 | C/G | — | likely pathogenic |
| rs201447742 | 20:4,680,430 | G/A | — | likely benign |
| rs1178466848 | 20:4,680,431 | G/A | — | uncertain significance |
| rs1163717358 | 20:4,680,457 | C/T | — | likely benign |
| rs74315405 | 20:4,680,459 | T/C | missense variant | pathogenic |
| rs28933385 | 20:4,680,464 | G/A | missense variant | pathogenic |
| rs145556589 | 20:4,680,469 | C/T | — | likely benign |
| rs371948269 | 20:4,680,472 | C/T | — | conflicting classifications of pathogenicity |
| rs2122230388 | 20:4,680,486 | A/G | — | uncertain significance |
| rs55826236 | 20:4,680,488 | C/T | — | uncertain significance |
Showing 100 of 150 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.