All transcript variants in gene ACO2

A database from the MITOchondrial DYNamics variation portal.
Classification of variants: please note that where there are several records of the same variant, the classification
of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the
classification of the variant, please view the SUMMARY record.
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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