DNAH5
dynein axonemal heavy chain 5
Summary
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Known Variants4,582 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149589710 | 5:13,690,441 | G/A | — | uncertain significance |
| rs763635720 | 5:13,690,480 | C/T | — | uncertain significance |
| rs115520709 | 5:13,690,502 | A/T | — | benign |
| rs574438524 | 5:13,690,587 | C/T | — | uncertain significance |
| rs144265705 | 5:13,690,591 | G/A | — | likely benign |
| rs77701143 | 5:13,690,704 | G/A | — | likely benign |
| rs886059930 | 5:13,690,732 | C/A | — | uncertain significance |
| rs886059931 | 5:13,690,751 | A/C | — | uncertain significance |
| rs917055972 | 5:13,690,795 | A/T | — | uncertain significance |
| rs115907706 | 5:13,690,937 | G/A | — | likely benign |
| rs148467464 | 5:13,690,974 | A/G | — | uncertain significance |
| rs2896111 | 5:13,691,045 | T/C | — | benign |
| rs1386874771 | 5:13,691,173 | T/C | — | uncertain significance |
| rs764924502 | 5:13,691,202 | T/C | — | uncertain significance |
| rs1427522956 | 5:13,691,210 | A/G | — | uncertain significance |
| rs886059932 | 5:13,691,291 | T/C | — | uncertain significance |
| rs146040448 | 5:13,691,318 | C/T | — | benign |
| rs972489046 | 5:13,691,396 | T/C | — | uncertain significance |
| rs77289648 | 5:13,691,444 | C/G | — | benign |
| rs189538534 | 5:13,691,530 | C/T | — | uncertain significance |
| rs139979856 | 5:13,691,648 | C/T | — | uncertain significance |
| rs564203224 | 5:13,691,666 | C/T | — | uncertain significance |
| rs541323896 | 5:13,691,667 | G/A | — | uncertain significance |
| rs778207515 | 5:13,691,738 | C/T | — | uncertain significance |
| rs866931796 | 5:13,691,744 | C/T | — | uncertain significance |
| rs955336890 | 5:13,691,788 | G/A | — | uncertain significance |
| rs771015963 | 5:13,691,802 | C/T | — | uncertain significance |
| rs936169293 | 5:13,691,812 | A/G | — | uncertain significance |
| rs527863586 | 5:13,691,993 | C/T | — | uncertain significance |
| rs886059933 | 5:13,692,001 | C/T | — | uncertain significance |
| rs151143347 | 5:13,692,009 | G/A | — | conflicting classifications of pathogenicity |
| rs1740751970 | 5:13,692,099 | G/C | — | likely benign |
| rs1254287410 | 5:13,692,105 | A/G | — | likely benign |
| rs1554012799 | 5:13,692,106 | C/T | — | uncertain significance |
| rs923678039 | 5:13,692,119 | C/A | — | uncertain significance |
| rs1408568795 | 5:13,692,124 | C/G | — | uncertain significance |
| rs771613197 | 5:13,692,125 | G/A | — | uncertain significance |
| rs1279008897 | 5:13,692,128 | G/A | — | uncertain significance |
| rs1740757504 | 5:13,692,129 | C/T | — | likely benign |
| rs147583407 | 5:13,692,131 | C/T | — | conflicting classifications of pathogenicity |
| rs748494424 | 5:13,692,141 | A/G | — | likely benign |
| rs886059934 | 5:13,692,143 | G/T | — | uncertain significance |
| rs770244453 | 5:13,692,151 | G/T | — | conflicting classifications of pathogenicity |
| rs191662365 | 5:13,692,161 | G/A | — | likely benign |
| rs771108785 | 5:13,692,164 | C/A | — | likely benign |
| rs774279588 | 5:13,692,170 | C/T | — | conflicting classifications of pathogenicity |
| rs375643128 | 5:13,692,171 | G/A | — | likely benign |
| rs1740764848 | 5:13,692,177 | G/A | — | likely benign |
| rs200555581 | 5:13,692,189 | C/T | — | likely benign |
| rs142036266 | 5:13,692,190 | G/A | — | conflicting classifications of pathogenicity |
| rs367709427 | 5:13,692,193 | C/T | — | conflicting classifications of pathogenicity |
| rs758112779 | 5:13,692,194 | G/A | — | pathogenic |
| rs1479332924 | 5:13,692,195 | A/C | — | likely benign |
| rs1397044941 | 5:13,692,203 | T/C | — | uncertain significance |
| rs1320036244 | 5:13,692,208 | T/C | — | uncertain significance |
| rs760428177 | 5:13,692,215 | G/T | — | uncertain significance |
| rs1452713574 | 5:13,692,219 | G/C | — | likely benign |
| rs770287375 | 5:13,692,221 | A/G | — | uncertain significance |
| rs369094478 | 5:13,692,222 | G/T | — | pathogenic |
| rs749862482 | 5:13,692,223 | T/C | — | uncertain significance |
| rs2546447796 | 5:13,692,228 | C/T | — | likely benign |
| rs771318876 | 5:13,692,230 | G/A | — | likely benign |
| rs774527322 | 5:13,692,232 | G/A | — | uncertain significance |
| rs1740774348 | 5:13,692,234 | A/G | — | uncertain significance |
| rs1365275304 | 5:13,692,239 | G/A | — | pathogenic |
| rs772086715 | 5:13,692,248 | C/T | — | likely benign |
| rs775698729 | 5:13,692,251 | A/C | — | likely benign |
| rs2546447940 | 5:13,692,254 | A/G | — | likely benign |
| rs760823380 | 5:13,692,255 | C/A | — | likely benign |
| rs2546447957 | 5:13,692,256 | A/G | — | likely benign |
| rs1036559068 | 5:13,692,257 | T/C | — | likely benign |
| rs201764984 | 5:13,692,261 | A/C | — | likely benign |
| rs753564987 | 5:13,692,263 | A/G | — | likely benign |
| rs2166337 | 5:13,692,279 | A/T | — | benign |
| rs79782251 | 5:13,700,718 | G/A | — | benign |
| rs2546466561 | 5:13,700,734 | T/C | — | likely benign |
| rs2546466576 | 5:13,700,738 | A/G | — | likely benign |
| rs747291233 | 5:13,700,753 | G/A | — | likely benign |
| rs1375781764 | 5:13,700,754 | T/C | — | conflicting classifications of pathogenicity |
| rs768846678 | 5:13,700,758 | C/T | — | uncertain significance |
| rs1741972132 | 5:13,700,759 | T/C | — | likely benign |
| rs776530999 | 5:13,700,768 | C/G | — | likely benign |
| rs2546466659 | 5:13,700,771 | T/G | — | likely benign |
| rs761546028 | 5:13,700,773 | T/C | — | uncertain significance |
| rs765032639 | 5:13,700,775 | A/G | — | likely benign |
| rs200891691 | 5:13,700,776 | C/G | — | likely benign |
| rs374221053 | 5:13,700,783 | C/G | — | conflicting classifications of pathogenicity |
| rs766044681 | 5:13,700,786 | C/T | — | likely benign |
| rs2126403865 | 5:13,700,792 | G/C | — | likely benign |
| rs1283108923 | 5:13,700,795 | C/T | — | likely benign |
| rs751090601 | 5:13,700,797 | C/A | — | likely benign |
| rs752010216 | 5:13,700,800 | T/C | — | conflicting classifications of pathogenicity |
| rs757572628 | 5:13,700,814 | A/G | — | likely benign |
| rs1561071962 | 5:13,700,816 | G/T | — | likely benign |
| rs779267747 | 5:13,700,826 | T/A | — | likely benign |
| rs2546466919 | 5:13,700,829 | C/T | — | uncertain significance |
| rs746445145 | 5:13,700,831 | C/T | — | likely benign |
| rs1741981670 | 5:13,700,834 | G/C | — | uncertain significance |
| rs1161303371 | 5:13,700,839 | A/G | — | pathogenic |
| rs780159177 | 5:13,700,840 | G/A | — | likely benign |
Showing 100 of 4,582 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.