MYO3A
myosin IIIA
Summary
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
Known Variants671 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs184554148 | 10:26,223,050 | G/A | — | uncertain significance |
| rs886046915 | 10:26,223,060 | G/C | — | uncertain significance |
| rs7073084 | 10:26,223,147 | A/G | — | likely benign |
| rs188597967 | 10:26,223,173 | C/G | — | likely benign |
| rs929411495 | 10:26,223,216 | G/A | — | uncertain significance |
| rs7073224 | 10:26,223,230 | A/G | — | likely benign |
| rs1835892283 | 10:26,223,253 | C/T | — | uncertain significance |
| rs886046917 | 10:26,224,727 | A/G | — | uncertain significance |
| rs564519092 | 10:26,224,740 | A/G | — | uncertain significance |
| rs189912098 | 10:26,224,747 | A/G | — | uncertain significance |
| rs10128298 | 10:26,224,759 | G/A | — | benign |
| rs946688 | 10:26,226,918 | C/G | upstream gene variant | — |
| rs17450092 | 10:26,240,944 | C/T | — | likely benign |
| rs11014875 | 10:26,241,025 | T/A | — | benign |
| rs727504593 | 10:26,241,040 | A/G | — | uncertain significance |
| rs1015649982 | 10:26,241,064 | A/G | — | uncertain significance |
| rs751347652 | 10:26,241,074 | A/T | — | uncertain significance |
| rs771163629 | 10:26,241,122 | G/A | — | uncertain significance |
| rs2491707819 | 10:26,241,142 | G/A | — | uncertain significance |
| rs199597249 | 10:26,241,151 | G/T | — | uncertain significance |
| rs144518447 | 10:26,241,152 | T/C | — | uncertain significance |
| rs764861194 | 10:26,241,154 | T/C | — | likely benign |
| rs2491708231 | 10:26,241,172 | C/T | — | pathogenic |
| rs144008984 | 10:26,241,191 | T/A | — | uncertain significance |
| rs1191024582 | 10:26,241,193 | C/G | — | uncertain significance |
| rs201668920 | 10:26,241,207 | C/T | — | uncertain significance |
| rs777866495 | 10:26,241,208 | G/A | — | likely pathogenic |
| rs369807549 | 10:26,241,210 | A/G | — | uncertain significance |
| rs749371871 | 10:26,241,215 | A/T | — | likely benign |
| rs7923691 | 10:26,241,456 | G/A | — | benign |
| rs12252546 | 10:26,243,603 | G/T | — | benign |
| rs12247318 | 10:26,243,710 | A/C | — | benign |
| rs146511800 | 10:26,243,804 | A/C | — | uncertain significance |
| rs139958275 | 10:26,243,811 | C/T | — | conflicting classifications of pathogenicity |
| rs569392916 | 10:26,243,836 | A/C | — | uncertain significance |
| rs757348590 | 10:26,243,844 | A/T | — | uncertain significance |
| rs372782893 | 10:26,243,853 | T/G | — | likely benign |
| rs1029832706 | 10:26,243,859 | C/A | — | uncertain significance |
| rs1232229010 | 10:26,243,864 | A/C | — | uncertain significance |
| rs377015132 | 10:26,243,867 | T/G | — | uncertain significance |
| rs1819582065 | 10:26,243,877 | C/A | — | uncertain significance |
| rs770359954 | 10:26,243,884 | A/T | — | uncertain significance |
| rs1471260922 | 10:26,243,888 | A/G | — | uncertain significance |
| rs759218900 | 10:26,243,892 | T/C | — | likely benign |
| rs775244099 | 10:26,243,905 | G/T | — | uncertain significance |
| rs977481088 | 10:26,243,909 | A/G | — | uncertain significance |
| rs1282051090 | 10:26,243,919 | G/T | — | uncertain significance |
| rs760525102 | 10:26,243,922 | G/A | — | likely benign |
| rs370111724 | 10:26,243,950 | G/C | — | likely benign |
| rs1546700 | 10:26,244,089 | T/A | — | benign |
| rs1546699 | 10:26,244,096 | G/T | — | benign |
| rs1546698 | 10:26,244,146 | A/G | — | benign |
| rs78666654 | 10:26,244,224 | T/A | — | benign |
| rs113396120 | 10:26,285,100 | G/A | — | benign |
| rs59118546 | 10:26,285,132 | C/T | — | likely benign |
| rs111430129 | 10:26,285,136 | T/C | — | benign |
| rs79417371 | 10:26,285,248 | A/G | — | benign |
| rs41279906 | 10:26,285,287 | A/C | — | benign |
| rs2130900312 | 10:26,285,408 | T/G | — | uncertain significance |
| rs1286058607 | 10:26,285,413 | G/C | — | likely benign |
| rs2130900493 | 10:26,285,426 | G/T | — | uncertain significance |
| rs886046918 | 10:26,285,447 | T/C | — | uncertain significance |
| rs756557890 | 10:26,285,489 | C/T | — | uncertain significance |
| rs1164910062 | 10:26,285,508 | A/C | — | uncertain significance |
| rs78788833 | 10:26,285,840 | T/G | — | likely benign |
| rs114693840 | 10:26,285,846 | T/C | — | likely benign |
| rs191938902 | 10:26,286,070 | A/G | — | likely benign |
| rs2492087698 | 10:26,286,082 | T/C | — | likely benign |
| rs140301218 | 10:26,286,103 | C/T | — | conflicting classifications of pathogenicity |
| rs189595832 | 10:26,286,105 | T/G | — | conflicting classifications of pathogenicity |
| rs773233985 | 10:26,286,136 | G/A | — | uncertain significance |
| rs1412624643 | 10:26,286,151 | T/C | — | likely benign |
| rs200879713 | 10:26,286,158 | C/T | — | uncertain significance |
| rs12257119 | 10:26,286,159 | G/T | — | benign |
| rs148923237 | 10:26,286,166 | G/A | — | uncertain significance |
| rs1840513520 | 10:26,286,189 | T/C | — | likely pathogenic |
| rs927392146 | 10:26,286,206 | G/A | — | likely benign |
| rs75002566 | 10:26,286,223 | A/T | — | likely benign |
| rs7911700 | 10:26,286,367 | G/A | — | benign |
| rs116294059 | 10:26,286,423 | C/T | — | benign |
| rs7911847 | 10:26,286,424 | G/A | — | likely benign |
| rs77372144 | 10:26,286,466 | G/A | — | likely benign |
| rs79266743 | 10:26,286,470 | G/A | — | likely benign |
| rs16926523 | 10:26,294,828 | G/A | intron variant | — |
| rs117238740 | 10:26,305,733 | T/C | — | likely benign |
| rs1842008289 | 10:26,305,734 | T/C | — | uncertain significance |
| rs1346197951 | 10:26,305,771 | T/G | — | uncertain significance |
| rs33968748 | 10:26,305,773 | C/T | — | likely benign |
| rs144053789 | 10:26,305,775 | C/T | — | conflicting classifications of pathogenicity |
| rs574220416 | 10:26,305,782 | G/A | — | likely benign |
| rs148349532 | 10:26,305,786 | G/T | — | conflicting classifications of pathogenicity |
| rs1379413436 | 10:26,305,807 | G/A | — | likely benign |
| rs727504671 | 10:26,305,808 | T/C | — | uncertain significance |
| rs200381660 | 10:26,305,828 | C/T | — | uncertain significance |
| rs202189844 | 10:26,305,829 | A/T | — | conflicting classifications of pathogenicity |
| rs2492357890 | 10:26,305,835 | A/T | — | likely benign |
| rs147399440 | 10:26,310,174 | C/T | — | likely benign |
| rs41314633 | 10:26,310,209 | C/T | — | benign |
| rs56077277 | 10:26,310,403 | C/T | — | benign |
| rs41314631 | 10:26,310,404 | A/G | — | benign |
Showing 100 of 671 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.