PNPT1
polyribonucleotide nucleotidyltransferase 1
Summary
The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
Known Variants698 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568249156 | 2:55,863,213 | A/T | — | likely benign |
| rs72930820 | 2:55,863,301 | A/G | — | benign |
| rs1256655826 | 2:55,863,373 | C/A | — | uncertain significance |
| rs2529454450 | 2:55,863,375 | C/T | — | likely benign |
| rs1051308974 | 2:55,863,379 | G/C | — | uncertain significance |
| rs201880461 | 2:55,863,388 | G/A | — | uncertain significance |
| rs201498158 | 2:55,863,389 | A/G | — | uncertain significance |
| rs768892122 | 2:55,863,390 | T/C | — | likely benign |
| rs774365432 | 2:55,863,403 | G/A | — | uncertain significance |
| rs566113211 | 2:55,863,421 | C/A | — | uncertain significance |
| rs375464915 | 2:55,863,423 | A/G | — | likely benign |
| rs146977004 | 2:55,863,431 | C/T | — | uncertain significance |
| rs376543538 | 2:55,863,433 | T/C | — | uncertain significance |
| rs1340851603 | 2:55,863,446 | C/G | — | uncertain significance |
| rs145553870 | 2:55,863,449 | C/T | — | uncertain significance |
| rs751043523 | 2:55,863,450 | G/A | — | likely benign |
| rs2529454953 | 2:55,863,452 | T/G | — | uncertain significance |
| rs1695672029 | 2:55,863,453 | T/G | — | likely benign |
| rs756689143 | 2:55,863,463 | G/A | — | uncertain significance |
| rs1572789693 | 2:55,863,465 | C/A | — | uncertain significance |
| rs781141054 | 2:55,863,471 | C/T | — | likely benign |
| rs2529455067 | 2:55,863,479 | G/T | — | likely benign |
| rs1425696642 | 2:55,863,490 | A/G | — | uncertain significance |
| rs1695673324 | 2:55,863,493 | C/T | — | uncertain significance |
| rs187750584 | 2:55,863,500 | C/T | — | uncertain significance |
| rs779141193 | 2:55,863,501 | G/A | — | likely benign |
| rs574670461 | 2:55,863,511 | C/T | — | conflicting classifications of pathogenicity |
| rs1033071660 | 2:55,863,512 | G/A | — | uncertain significance |
| rs374166754 | 2:55,863,517 | A/C | — | uncertain significance |
| rs771462142 | 2:55,863,545 | A/C | — | likely benign |
| rs57254503 | 2:55,863,562 | C/G | — | likely benign |
| rs113275808 | 2:55,863,589 | T/C | — | likely benign |
| rs141410243 | 2:55,864,403 | C/T | — | likely benign |
| rs754737888 | 2:55,864,671 | G/A | — | likely benign |
| rs2529458860 | 2:55,864,675 | G/A | — | likely benign |
| rs970338196 | 2:55,864,681 | A/G | — | uncertain significance |
| rs1228800641 | 2:55,864,695 | C/T | — | uncertain significance |
| rs775812797 | 2:55,864,702 | A/G | — | likely benign |
| rs983072995 | 2:55,864,717 | G/A | — | likely benign |
| rs1695714326 | 2:55,864,733 | A/G | — | uncertain significance |
| rs761493792 | 2:55,864,739 | A/G | — | likely benign |
| rs138300494 | 2:55,864,745 | A/C | — | likely benign |
| rs372630803 | 2:55,864,748 | T/A | — | likely benign |
| rs142979302 | 2:55,864,752 | A/T | — | likely benign |
| rs370060385 | 2:55,864,753 | A/G | — | likely benign |
| rs112812946 | 2:55,865,038 | G/T | — | benign |
| rs368198928 | 2:55,867,742 | A/G | — | likely benign |
| rs772789040 | 2:55,867,743 | A/G | — | likely benign |
| rs371761857 | 2:55,867,746 | A/C | — | likely benign |
| rs1381994940 | 2:55,867,748 | A/G | — | likely benign |
| rs543287562 | 2:55,867,754 | C/G | — | likely benign |
| rs374690825 | 2:55,867,756 | T/A | — | uncertain significance |
| rs1318691269 | 2:55,867,763 | T/C | — | uncertain significance |
| rs765249456 | 2:55,867,766 | C/T | — | uncertain significance |
| rs752550279 | 2:55,867,773 | C/A | — | pathogenic |
| rs2529468579 | 2:55,867,774 | A/G | — | likely benign |
| rs758199841 | 2:55,867,777 | T/C | — | likely benign |
| rs2529468609 | 2:55,867,779 | G/A | — | pathogenic |
| rs367694300 | 2:55,867,781 | G/A | — | uncertain significance |
| rs145069656 | 2:55,867,798 | C/T | — | likely benign |
| rs148804101 | 2:55,867,804 | C/G | — | uncertain significance |
| rs2529468701 | 2:55,867,805 | A/G | — | uncertain significance |
| rs1012368621 | 2:55,867,835 | G/A | — | uncertain significance |
| rs2529468836 | 2:55,867,838 | T/G | — | uncertain significance |
| rs145739483 | 2:55,867,845 | A/G | — | likely benign |
| rs1276550634 | 2:55,867,855 | A/G | — | likely benign |
| rs768971285 | 2:55,867,856 | T/G | — | likely benign |
| rs34679603 | 2:55,867,938 | A/G | — | benign |
| rs762164126 | 2:55,870,274 | G/A | — | likely benign |
| rs2104026165 | 2:55,870,290 | T/C | — | pathogenic |
| rs2529476670 | 2:55,870,295 | G/A | — | uncertain significance |
| rs780574835 | 2:55,870,298 | T/A | — | uncertain significance |
| rs1572795877 | 2:55,870,304 | T/G | — | likely benign |
| rs767608725 | 2:55,870,312 | C/T | missense variant | — |
| rs376094443 | 2:55,870,313 | G/A | — | likely benign |
| rs2529476726 | 2:55,870,314 | G/A | — | uncertain significance |
| rs544405485 | 2:55,870,319 | T/C | — | likely benign |
| rs1402295663 | 2:55,870,323 | G/A | — | uncertain significance |
| rs2529476843 | 2:55,870,348 | G/A | — | pathogenic |
| rs1321427758 | 2:55,870,350 | T/C | — | likely pathogenic |
| rs748445058 | 2:55,870,351 | G/C | — | likely pathogenic |
| rs770626405 | 2:55,870,352 | T/G | — | likely benign |
| rs1695888227 | 2:55,870,357 | G/A | — | likely benign |
| rs2529476905 | 2:55,870,365 | A/C | — | likely benign |
| rs745401550 | 2:55,870,367 | C/G | — | likely benign |
| rs2529477242 | 2:55,870,435 | T/G | — | likely benign |
| rs2529477268 | 2:55,870,441 | G/T | — | likely benign |
| rs745564474 | 2:55,870,442 | A/T | — | likely benign |
| rs140561046 | 2:55,870,454 | A/G | — | uncertain significance |
| rs144252007 | 2:55,870,455 | T/A | — | uncertain significance |
| rs1006634805 | 2:55,870,456 | C/T | — | uncertain significance |
| rs1268172388 | 2:55,870,458 | T/C | — | uncertain significance |
| rs760643019 | 2:55,870,478 | G/C | — | uncertain significance |
| rs201269381 | 2:55,870,485 | C/T | — | conflicting classifications of pathogenicity |
| rs145017720 | 2:55,870,493 | A/G | — | likely benign |
| rs545932442 | 2:55,870,494 | T/C | — | uncertain significance |
| rs1168592877 | 2:55,870,495 | G/A | — | uncertain significance |
| rs765801538 | 2:55,870,507 | G/A | — | uncertain significance |
| rs2529477532 | 2:55,870,511 | T/C | — | likely benign |
| rs1226004660 | 2:55,870,522 | C/T | — | uncertain significance |
Showing 100 of 698 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.