OPA1
OPA1 mitochondrial dynamin like GTPase
Summary
The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]
Known Variants1,099 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73067625 | 3:193,310,587 | A/C | — | likely benign |
| rs181230813 | 3:193,310,890 | C/T | — | likely benign |
| rs532165115 | 3:193,310,985 | C/A | — | uncertain significance |
| rs146295726 | 3:193,310,995 | T/A | — | benign |
| rs1057509207 | 3:193,311,023 | T/C | — | uncertain significance |
| rs886058255 | 3:193,311,065 | G/A | — | uncertain significance |
| rs568049951 | 3:193,311,156 | C/G | — | likely benign |
| rs775614028 | 3:193,311,157 | C/T | — | conflicting classifications of pathogenicity |
| rs371988066 | 3:193,311,159 | C/T | — | conflicting classifications of pathogenicity |
| rs964787052 | 3:193,311,164 | G/A | — | uncertain significance |
| rs77160003 | 3:193,311,167 | A/T | — | likely pathogenic |
| rs1724946838 | 3:193,311,169 | G/A | — | pathogenic |
| rs1396144821 | 3:193,311,171 | G/T | — | uncertain significance |
| rs2474395788 | 3:193,311,172 | G/A | — | likely pathogenic |
| rs2474395815 | 3:193,311,173 | C/T | — | pathogenic |
| rs2474395929 | 3:193,311,182 | C/G | — | uncertain significance |
| rs1462202572 | 3:193,311,187 | C/T | — | likely benign |
| rs794726939 | 3:193,311,188 | G/T | — | uncertain significance |
| rs750596030 | 3:193,311,196 | C/G | — | likely benign |
| rs201927764 | 3:193,311,212 | C/T | — | likely benign |
| rs751305897 | 3:193,311,222 | C/G | — | uncertain significance |
| rs6781575 | 3:193,311,484 | C/T | — | benign |
| rs370303596 | 3:193,332,504 | T/C | — | conflicting classifications of pathogenicity |
| rs373753869 | 3:193,332,516 | G/A | — | uncertain significance |
| rs1728753452 | 3:193,332,517 | T/G | — | uncertain significance |
| rs75414918 | 3:193,332,522 | C/A | — | benign |
| rs760770105 | 3:193,332,528 | T/A | — | uncertain significance |
| rs2108864324 | 3:193,332,531 | G/C | — | uncertain significance |
| rs1321305109 | 3:193,332,537 | C/T | — | likely benign |
| rs201520438 | 3:193,332,549 | A/G | — | conflicting classifications of pathogenicity |
| rs1473275837 | 3:193,332,556 | G/A | — | uncertain significance |
| rs145565705 | 3:193,332,564 | C/G | — | conflicting classifications of pathogenicity |
| rs2474574926 | 3:193,332,565 | C/A | — | uncertain significance |
| rs765574821 | 3:193,332,566 | A/G | — | likely benign |
| rs185976555 | 3:193,332,567 | C/T | — | conflicting classifications of pathogenicity |
| rs758056583 | 3:193,332,568 | T/C | — | conflicting classifications of pathogenicity |
| rs933583665 | 3:193,332,573 | A/C | — | uncertain significance |
| rs2474575098 | 3:193,332,578 | A/G | — | likely benign |
| rs757398708 | 3:193,332,583 | T/C | — | uncertain significance |
| rs1728762972 | 3:193,332,585 | G/C | — | uncertain significance |
| rs149756039 | 3:193,332,589 | C/T | — | uncertain significance |
| rs761460379 | 3:193,332,591 | C/T | — | pathogenic |
| rs866025924 | 3:193,332,592 | G/A | — | uncertain significance |
| rs1282452294 | 3:193,332,594 | A/G | — | likely benign |
| rs2474575366 | 3:193,332,595 | G/A | — | uncertain significance |
| rs1728765767 | 3:193,332,597 | A/G | — | uncertain significance |
| rs145563233 | 3:193,332,603 | C/T | — | conflicting classifications of pathogenicity |
| rs1315189266 | 3:193,332,606 | T/C | — | likely benign |
| rs2474575723 | 3:193,332,617 | T/A | — | likely benign |
| rs2474575772 | 3:193,332,623 | A/G | — | likely benign |
| rs1254486828 | 3:193,332,629 | T/G | — | likely benign |
| rs148462105 | 3:193,332,631 | A/G | — | likely benign |
| rs749115822 | 3:193,332,634 | G/A | — | likely benign |
| rs760710808 | 3:193,332,641 | A/G | — | likely benign |
| rs2474576058 | 3:193,332,647 | G/T | — | uncertain significance |
| rs549213088 | 3:193,332,649 | C/T | — | uncertain significance |
| rs558532319 | 3:193,332,661 | A/G | — | likely benign |
| rs2474576227 | 3:193,332,662 | G/A | — | likely benign |
| rs777179811 | 3:193,332,666 | T/A | — | conflicting classifications of pathogenicity |
| rs1333436619 | 3:193,332,670 | C/T | — | uncertain significance |
| rs2474576384 | 3:193,332,672 | C/G | — | uncertain significance |
| rs750775588 | 3:193,332,684 | C/G | — | conflicting classifications of pathogenicity |
| rs368488165 | 3:193,332,690 | C/T | missense variant | pathogenic |
| rs766106312 | 3:193,332,691 | G/A | — | conflicting classifications of pathogenicity |
| rs532878175 | 3:193,332,694 | A/C | — | conflicting classifications of pathogenicity |
| rs114157340 | 3:193,332,701 | A/T | — | conflicting classifications of pathogenicity |
| rs1211667149 | 3:193,332,710 | A/G | — | likely benign |
| rs2474576897 | 3:193,332,711 | A/G | — | uncertain significance |
| rs752258799 | 3:193,332,716 | A/G | — | likely benign |
| rs1432310704 | 3:193,332,717 | T/C | — | uncertain significance |
| rs151103940 | 3:193,332,718 | A/G | — | likely benign |
| rs777713445 | 3:193,332,719 | T/C | — | likely benign |
| rs749063844 | 3:193,332,724 | A/G | — | conflicting classifications of pathogenicity |
| rs201580797 | 3:193,332,725 | C/T | — | likely benign |
| rs372435892 | 3:193,332,732 | C/T | — | conflicting classifications of pathogenicity |
| rs35630194 | 3:193,332,733 | G/A | — | conflicting classifications of pathogenicity |
| rs1728788655 | 3:193,332,746 | G/T | — | uncertain significance |
| rs1274743555 | 3:193,332,749 | A/C | — | likely benign |
| rs751986355 | 3:193,332,750 | G/A | — | likely benign |
| rs1085307621 | 3:193,332,751 | C/G | — | uncertain significance |
| rs1728790258 | 3:193,332,753 | A/G | — | uncertain significance |
| rs767232015 | 3:193,332,757 | T/C | — | uncertain significance |
| rs2474577588 | 3:193,332,762 | A/G | — | uncertain significance |
| rs201214736 | 3:193,332,763 | C/T | — | conflicting classifications of pathogenicity |
| rs753835372 | 3:193,332,764 | G/A | — | likely benign |
| rs2474577653 | 3:193,332,767 | A/T | — | uncertain significance |
| rs369233231 | 3:193,332,768 | C/G | — | uncertain significance |
| rs2474577737 | 3:193,332,777 | C/G | — | uncertain significance |
| rs371943668 | 3:193,332,780 | C/T | — | conflicting classifications of pathogenicity |
| rs201856560 | 3:193,332,781 | G/A | — | uncertain significance |
| rs530896300 | 3:193,332,784 | A/G | — | conflicting classifications of pathogenicity |
| rs755117948 | 3:193,332,791 | A/G | — | uncertain significance |
| rs781501736 | 3:193,332,795 | G/C | — | uncertain significance |
| rs2108865723 | 3:193,332,797 | A/T | — | likely benign |
| rs376643015 | 3:193,332,799 | C/A | — | pathogenic |
| rs117888848 | 3:193,332,800 | G/A | — | benign |
| rs2108865778 | 3:193,332,802 | C/T | — | uncertain significance |
| rs77173739 | 3:193,332,805 | T/C | — | uncertain significance |
| rs202054347 | 3:193,332,806 | T/G | — | likely benign |
| rs1228523553 | 3:193,332,813 | G/A | — | uncertain significance |
Showing 100 of 1,099 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.