All variants in the ACO2 gene

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_001098.2 transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. _1 c.-494T>A r.(?) p.(=) - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 1i c.36+5del r.spl? p.? - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 2 c.72A>G r.(?) p.(=) - benign g.41895765A>G g.41499761A>G - - ACO2_000003 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 2 c.84A>G r.(?) p.(=) - benign g.41895777A>G g.41499773A>G - - ACO2_000033 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 2 c.166C>T r.(?) p.(Arg56Cys) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 2 c.172C>T r.(?) p.(Arg58*) - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) - likely benign g.41903801C>G g.41507797C>G - - ACO2_000034 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3 c.192A>C r.(?) p.(=) - benign g.41903813A>C g.41507809A>C - - ACO2_000004 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - - - - SUMMARY record - - - 0 - Marc Ferre
-/? 3 c.220C>G r.(?) p.(Leu74Val) - likely benign g.41903841C>G g.41507837C>G - - ACO2_000005 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3 c.231C>T r.(?) p.(=) - benign g.41903852C>T g.41507848C>T - - ACO2_000006 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 3 c.275G>A r.(?) p.(Arg92Gln) - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3 c.282C>T r.(?) p.(=) - benign g.41903903C>T g.41507899C>T - - ACO2_000007 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 3 c.316G>A r.(?) p.(Ala106Thr) - VUS g.41903937G>A g.41507933G>A - - ACO2_000035 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 3 c.323T>C r.(?) p.(Leu108Pro) - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3i c.432+19T>C r.(=) p.(=) - benign g.41904072T>C g.41508068T>C - - ACO2_000008 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.487G>A r.(?) p.(Val163Met) - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.487G>T r.(?) p.(Val163Leu) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.514A>C r.(?) p.(Ile172Leu) - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4i c.525+1G>A r.spl? p.? - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 4i c.525+6G>A r.(=) p.(=) - likely benign g.41907978G>A g.41511974G>A - - ACO2_000036 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4i c.526-2A>G r.spl? p.? - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 5 c.573T>C r.(?) p.(=) - benign g.41911428T>C g.41515424T>C - - ACO2_000037 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.610A>C r.(?) p.(Ile204Leu) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 4 c.670C>T r.(?) p.(=) - benign g.41911525C>T g.41515521C>T - - ACO2_000038 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.680C>A r.(?) p.(Pro227His) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 5i c.684+1G>T r.spl? p.? - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 - - - rs747330606 SUMMARY record - - - 0 - Marc Ferre
+/. 6 c.718G>A r.(?) p.(Gly240Ser) - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C - - ACO2_000002 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 6 c.740T>C r.(?) p.(Val247Ala) - pathogenic (dominant) g.41911826T>C g.41515822T>C - - ACO2_000058 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 6 c.741del r.(?) p.(Ile248Serfs*2) - pathogenic (dominant) g.41911827del g.41515823del - - ACO2_000059 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 6 c.776G>A r.(?) p.(Gly259Asp) - likely pathogenic (recessive) g.41911862G>A g.41515858G>A - - ACO2_000023 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 6 c.812G>A r.(?) p.(Gly271Asp) - pathogenic (recessive) g.41911898G>A g.41515894G>A - - ACO2_000108 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 6i c.836-2A>C r.spl? p.? - likely pathogenic g.41913529A>C g.41517525A>C - - ACO2_000009 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 7 c.935G>A r.(?) p.(Arg312Gln) - pathogenic (dominant) g.41913630G>A g.41517626G>A - - ACO2_000060 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 8 c.978G>T r.(?) p.(Leu326Phe) - VUS g.41914522G>T g.41518518G>T - - ACO2_000010 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 8 c.988C>T r.(?) p.(Pro330Ser) - likely benign g.41914532C>T g.41518528C>T - - ACO2_000011 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 8i c.1032+1G>C r.spl? p.? - pathogenic (dominant) g.41914577G>C g.41518573G>C - - ACO2_000061 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 8i c.1032+2T>C r.spl? p.? - pathogenic (dominant) g.41914578T>C g.41518574T>C - - ACO2_000062 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 8i c.1032+5G>A r.spl? p.? - pathogenic (dominant) g.41914581G>A g.41518577G>A - - ACO2_000063 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 8i c.1032+17C>T r.(=) p.(=) - benign g.41914593C>T g.41518589C>T - - ACO2_000012 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 9 c.1064C>G r.(?) p.(Pro355Arg) - pathogenic (recessive) g.41916206C>G g.41520202C>G - - ACO2_000086 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 9 c.1091T>C r.(?) p.(Val364Ala) - likely pathogenic (recessive) g.41916233T>C g.41520229T>C - - ACO2_000024 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 9 c.1113A>G r.(?) p.(=) - benign g.41916255A>G g.41520251A>G - - ACO2_000039 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 9 c.1132C>T r.(?) p.(Arg378*) - pathogenic (dominant) g.41916274C>T g.41520270C>T - - ACO2_000064 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10 c.1181G>A r.(?) p.(Gly394Glu) - pathogenic (recessive) g.41918876G>A g.41522872G>A - - ACO2_000123 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10 c.1237C>T r.(?) p.(Gln413*) - pathogenic (dominant) g.41918932C>T g.41522928C>T - - ACO2_000065 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10 c.1240T>G r.(?) p.(Phe414Val) - likely pathogenic (recessive) g.41918935T>G g.41522931T>G - - ACO2_000025 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10 c.1254dup r.(?) p.(Gly419Argfs*10) - pathogenic (dominant) g.41918949dup g.41522945dup - - ACO2_000066 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 10 c.1276A>G r.(?) p.(Thr426Ala) - VUS g.41918971A>G g.41522967A>G - - ACO2_000013 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10 c.1291G>A r.(?) p.(Gly431Ser) - pathogenic (dominant) g.41918986G>A g.41522982G>A - - ACO2_000067 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 10i c.1296+18C>T r.(=) p.(=) - benign g.41919009C>T g.41523005C>T - - ACO2_000014 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 10i c.1297-1G>C r.spl? p.? - pathogenic (recessive) g.41919208G>C g.41523204G>C - - ACO2_000109 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 11 c.1300C>T r.(?) p.(Gln434*) - pathogenic (dominant) g.41919212C>T g.41523208C>T - - ACO2_000068 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 11i c.1370+1G>A r.spl? p.? - pathogenic (dominant) g.41919283G>A g.41523279G>A - - ACO2_000069 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1387G>C r.(?) p.(Gly463Arg) - pathogenic (dominant) g.41919850G>C g.41523846G>C - - ACO2_000070 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1390G>T r.(?) p.(Glu464*) - pathogenic (recessive) g.41919853G>T g.41523849G>T - - ACO2_000087 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1406T>A r.(?) p.(Val469Asp) - pathogenic (recessive) g.41919869T>A g.41523865T>A - - ACO2_000110 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1411T>C r.(?) p.(Ser471Pro) - pathogenic (dominant) g.41919874T>C g.41523870T>C - - ACO2_000071 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1420A>G r.(?) p.(Arg474Gly) - pathogenic (dominant) g.41919883A>G g.41523879A>G - - ACO2_000072 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1425C>G r.(?) p.(Asn475Lys) - pathogenic (dominant) g.41919888C>G g.41523884C>G - - ACO2_000073 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1444G>A r.(?) p.(Ala482Thr) - pathogenic (dominant) g.41919907G>A g.41523903G>A - - ACO2_000111 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1452_1459del r.(?) p.(Glu485Cysfs*44) - pathogenic (dominant) g.41919915_41919922del g.41523911_41523918del - - ACO2_000074 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 12 c.1454A>G r.(?) p.(Glu485Gly) - pathogenic (dominant) g.41919917A>G g.41523913A>G - - ACO2_000075 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 13 c.1508G>A r.(?) p.(Gly503Glu) - pathogenic (recessive) g.41920875G>A g.41524871G>A - - ACO2_000112 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 13 c.1534G>A r.(?) p.(Asp512Asn) - likely pathogenic (recessive) g.41920901G>A g.41524897G>A - - ACO2_000046 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 13 c.1561A>T r.(?) p.(Lys521*) - pathogenic (dominant) g.41920928A>T g.41524924A>T - - ACO2_000113 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 13 c.1581G>A r.(?) p.(=) - benign g.41920948G>A g.41524944G>A - - ACO2_000015 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 13i c.1605+3G>A r.spl? p.? - likely benign g.41920975G>A g.41524971G>A - - ACO2_000016 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 14 c.1671C>T r.(?) p.(=) - likely benign g.41921262C>T g.41525258C>T - - ACO2_000040 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 14 c.1690C>T r.(?) p.(Arg564Cys) - likely pathogenic (recessive) g.41921281C>T g.41525277C>T - - ACO2_000114 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 14 c.1722G>C r.(?) p.(Trp574Cys) - pathogenic (recessive) g.41921313G>C g.41525309G>C - - ACO2_000124 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 14 c.1724dup r.(?) p.(Asp575Glufs*21) - pathogenic (dominant) g.41921315dup g.41525311dup - - ACO2_000076 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 14 c.1753_1755del r.(?) p.(Leu585del) - pathogenic (dominant) g.41921344_41921346del g.41525340_41525342del - - ACO2_000088 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 14 c.1753_1759del r.(?) p.(Leu585Argfs*73) - pathogenic (dominant) g.41921344_41921350del g.41525340_41525346del - - ACO2_000089 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1787A>C r.(?) p.(His596Pro) - pathogenic (dominant) g.41922291A>C g.41526287A>C - - ACO2_000077 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1789A>T r.(?) p.(Ile597Phe) - pathogenic (dominant) g.41922293A>T g.41526289A>T - - ACO2_000078 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1808G>C r.(?) p.(Trp603Ser) - pathogenic (dominant) g.41922312G>C g.41526308G>C - - ACO2_000090 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 15 c.1819C>T r.(?) p.(Arg607Cys) - likely pathogenic (recessive) g.41922323C>T g.41526319C>T - - ACO2_000026 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1820G>A r.(?) p.(Arg607His) - pathogenic (dominant) g.41922324G>A g.41526320G>A - - ACO2_000079 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 15 c.1859G>A r.(?) p.(Gly620Asp) - likely pathogenic (recessive) g.41922363G>A g.41526359G>A - - ACO2_000021 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1877dup r.(?) p.(Asn626Lysfs*20) - pathogenic (dominant) g.41922381dup g.41526377dup - - ACO2_000080 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 15 c.1879G>A r.(?) p.(Gly627Ser) - pathogenic (recessive) g.41922383G>A g.41526379G>A - - ACO2_000091 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1894G>A r.(?) p.(Val632Met) - likely pathogenic (recessive) g.41922398G>A g.41526394G>A - - ACO2_000122 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 15 c.1898G>A r.(?) p.(Arg633His) - pathogenic (dominant) g.41922402G>A g.41526398G>A - - ACO2_000092 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 15i c.1954-12C>T r.(=) p.(=) - benign g.41923280C>T g.41527276C>T - - ACO2_000017 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.1981G>A r.(?) p.(Gly661Arg) - pathogenic (recessive) g.41923319G>A g.41527315G>A - - ACO2_000093 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.1981G>C r.(?) p.(Gly661Arg) - likely pathogenic (recessive) g.41923319G>C g.41527315G>C - - ACO2_000027 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 16 c.1986C>T r.(?) p.(=) - likely benign g.41923324C>T g.41527320C>T - - ACO2_000048 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.1987G>T r.(?) p.(Glu663*) - pathogenic (dominant) g.41923325G>T g.41527321G>T - - ACO2_000081 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.1995dup r.(?) p.(Gly666Argfs*46) - pathogenic (dominant) g.41923333dup g.41527329dup - - ACO2_000094 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 16 c.1997G>C r.(?) p.(Gly666Ala) - likely pathogenic (recessive) g.41923335G>C g.41527331G>C - - ACO2_000047 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.1999G>A r.(?) p.(Glu667Lys) - pathogenic (dominant) g.41923337G>A g.41527333G>A - - ACO2_000082 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.2011C>T r.(?) p.(Arg671Trp) - pathogenic (dominant) g.41923349C>T g.41527345C>T - - ACO2_000095 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 16 c.2012G>A r.(?) p.(Arg671Gln) - likely pathogenic g.41923350G>A g.41527346G>A - - ACO2_000041 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 16 c.2035C>T r.(?) p.(Arg679Cys) - pathogenic (dominant) g.41923373C>T g.41527369C>T - - ACO2_000096 - - - - SUMMARY record - - - 0 - Marc Ferre
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