SHQ1
SHQ1, H/ACA ribonucleoprotein assembly factor
Summary
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9880763 | 3:72,789,805 | G/C | intergenic variant | — |
| rs144498351 | 3:72,799,481 | C/T | — | likely benign |
| rs571050907 | 3:72,799,482 | G/A | — | uncertain significance |
| rs199656163 | 3:72,799,494 | T/G | — | uncertain significance |
| rs34031957 | 3:72,799,548 | C/T | — | benign |
| rs2471567424 | 3:72,799,556 | A/C | — | uncertain significance |
| rs1047731047 | 3:72,799,589 | G/A | — | uncertain significance |
| rs145150877 | 3:72,799,641 | G/A | — | likely benign |
| rs1157806749 | 3:72,799,686 | A/C | — | uncertain significance |
| rs745584423 | 3:72,799,691 | C/A | — | uncertain significance |
| rs1309843400 | 3:72,799,707 | C/A | — | uncertain significance |
| rs541767597 | 3:72,799,773 | A/G | — | uncertain significance |
| rs779590242 | 3:72,799,799 | G/A | — | uncertain significance |
| rs1307031018 | 3:72,799,935 | T/C | — | uncertain significance |
| rs1265028259 | 3:72,799,943 | G/C | — | uncertain significance |
| rs9814945 | 3:72,803,590 | C/A | — | — |
| rs145173538 | 3:72,806,191 | G/T | regulatory region variant | — |
| rs11922794 | 3:72,813,582 | G/C | intron variant | — |
| rs2471618189 | 3:72,842,133 | T/C | — | uncertain significance |
| rs76052464 | 3:72,861,831 | A/G | — | benign |
| rs759531964 | 3:72,861,885 | G/C | — | conflicting classifications of pathogenicity |
| rs755787043 | 3:72,861,948 | G/C | — | uncertain significance |
| rs1420754646 | 3:72,866,389 | C/T | — | uncertain significance |
| rs1559686922 | 3:72,866,412 | T/C | — | uncertain significance |
| rs1707346649 | 3:72,866,430 | A/G | — | conflicting classifications of pathogenicity |
| rs1375855561 | 3:72,873,598 | T/C | — | uncertain significance |
| rs141348498 | 3:72,873,658 | T/C | — | uncertain significance |
| rs145841189 | 3:72,873,677 | T/C | — | likely benign |
| rs375764192 | 3:72,873,694 | A/C | — | uncertain significance |
| rs779310599 | 3:72,881,532 | G/T | — | uncertain significance |
| rs746076879 | 3:72,881,562 | C/T | — | uncertain significance |
| rs143636968 | 3:72,881,596 | C/A | — | conflicting classifications of pathogenicity |
| rs78864416 | 3:72,881,614 | T/C | — | benign |
| rs753125572 | 3:72,881,617 | C/T | — | uncertain significance |
| rs764950055 | 3:72,890,204 | G/A | — | uncertain significance |
| rs780333535 | 3:72,890,239 | T/C | — | uncertain significance |
| rs61734040 | 3:72,890,281 | C/T | — | benign |
| rs143770521 | 3:72,891,500 | G/A | — | benign |
| rs765405153 | 3:72,891,521 | G/C | — | uncertain significance |
| rs78491606 | 3:72,891,547 | A/C | missense variant | — |
| rs1381088778 | 3:72,893,539 | C/T | — | uncertain significance |
| rs1708268708 | 3:72,893,543 | C/T | — | uncertain significance |
| rs762060684 | 3:72,893,574 | T/C | — | likely benign |
| rs760221165 | 3:72,897,402 | G/T | — | uncertain significance |
| rs148030588 | 3:72,897,412 | G/A | — | uncertain significance |
| rs375722695 | 3:72,897,421 | G/T | — | uncertain significance |
| rs2471292686 | 3:72,897,437 | T/C | — | uncertain significance |
| rs769998067 | 3:72,897,455 | C/G | — | uncertain significance |
| rs759093041 | 3:72,897,458 | G/A | — | uncertain significance |
| rs146220182 | 3:72,897,459 | A/C | — | likely benign |
| rs2471292902 | 3:72,897,463 | T/C | — | uncertain significance |
| rs79534835 | 3:72,897,467 | T/C | — | benign |
| rs2471292965 | 3:72,897,470 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.