### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACO2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "ACO2" "aconitase 2, mitochondrial" "22" "q13.2" "unknown" "NC_000022.10" "UD_138379853523" "" "" "" "1" "1" "118" "50" "100850" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 00:00:00" "00001" "2013-11-07 14:52:26" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000019" "ACO2" "transcript variant X2" "001" "XM_005261622.1" "" "XP_005261679.1" "" "" "" "-52" "1837" "1476" "41865099" "41924978" "00001" "2013-11-07 13:44:25" "" "" "" "22" "00000020" "ACO2" "transcript variant X1" "002" "XM_005261621.1" "" "XP_005261678.1" "" "" "" "-236" "2455" "2094" "41865126" "41924978" "00001" "2013-11-07 13:44:25" "" "" "" "22" "00000021" "ACO2" "aconitase 2, mitochondrial" "003" "NM_001098.2" "" "NP_001089.1" "" "" "" "-22" "2719" "2343" "41865129" "41924993" "00001" "2013-11-07 13:44:25" "" "" "" "22" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00108" "ICRD" "Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial?" "614559" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACO2" "00108" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 15 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000020050" "0" "99" "22" "41903957" "41903957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-08 23:23:25" "ACO2_000001" "g.41903957C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020050" "" "0000020051" "0" "99" "22" "41911862" "41911862" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:18:14" "ACO2_000002" "g.41911862G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020051" "" "0000020052" "0" "77" "22" "41920917" "41920917" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:14:26" "ACO2_000003" "g.41920917C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020052" "" "0000020053" "0" "77" "22" "41922323" "41922323" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-08 23:22:14" "ACO2_000004" "g.41922323C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020053" "" "0000020054" "0" "77" "22" "41923953" "41923953" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-08 23:18:48" "ACO2_000005" "g.41923953C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020054" "" "0000020055" "0" "99" "22" "41924026" "41924026" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:10:59" "ACO2_000006" "g.41924026G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020055" "" "0000020056" "0" "00" "22" "41924599" "41924602" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:14:15" "ACO2_000007" "g.41924599_41924602del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020056" "" "0000020057" "0" "99" "22" "41924611" "41924612" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-08 23:23:36" "ACO2_000008" "g.41924611_41924612del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020057" "" "0000026019" "0" "00" "22" "41903841" "41903841" "subst" "35" "0.00415257" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-23 19:01:35" "ACO2_000011" "g.41903841C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026020" "0" "00" "22" "41911805" "41911805" "subst" "35" "0.00107643" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:00:21" "ACO2_000012" "g.41911805G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026021" "0" "00" "22" "41918980" "41918980" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:00:58" "ACO2_000013" "g.41918980C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026022" "0" "00" "22" "41923364" "41923364" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-11 04:24:31" "ACO2_000014" "g.41923364C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026023" "0" "00" "22" "41923388" "41923388" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-23 19:01:47" "ACO2_000015" "g.41923388C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026024" "0" "00" "22" "41923389" "41923389" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-23 19:03:00" "ACO2_000009" "g.41923389G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026025" "0" "00" "22" "41923971" "41923971" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-23 19:06:18" "ACO2_000010" "g.41923971T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 45 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000020050" "00000019" "00" "128" "8136" "128" "8136" "c.128+8136C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020050" "00000020" "00" "98" "-11" "98" "-11" "c.98-11C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020050" "00000021" "00" "336" "0" "336" "0" "c.336C>G" "" "p.(Ser112Arg)" "r.(?)" "" "" "" "" "" "-" "0000020051" "00000019" "00" "129" "-2678" "129" "-2678" "c.129-2678G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020051" "00000020" "00" "527" "0" "527" "0" "c.527G>A" "" "p.(Gly176Asp)" "r.(?)" "" "" "" "" "" "-" "0000020051" "00000021" "00" "776" "0" "776" "0" "c.776G>A" "" "p.(Gly259Asp)" "r.(?)" "" "" "" "" "" "-" "0000020052" "00000019" "00" "683" "0" "683" "0" "c.683C>T" "" "p.(Thr228Met)" "r.(?)" "" "" "" "" "" "-" "0000020052" "00000020" "00" "1301" "0" "1301" "0" "c.1301C>T" "" "p.(Thr434Met)" "r.(?)" "" "" "" "" "" "-" "0000020052" "00000021" "00" "1550" "0" "1550" "0" "c.1550C>T" "" "p.(Thr517Met)" "r.(?)" "" "" "" "" "" "-" "0000020053" "00000019" "00" "952" "0" "952" "0" "c.952C>T" "" "p.(Arg318Cys)" "r.(?)" "" "" "" "" "" "-" "0000020053" "00000020" "00" "1570" "0" "1570" "0" "c.1570C>T" "" "p.(Arg524Cys)" "r.(?)" "" "" "" "" "" "-" "0000020053" "00000021" "00" "1819" "0" "1819" "0" "c.1819C>T" "" "p.(Arg607Cys)" "r.(?)" "" "" "" "" "" "-" "0000020054" "00000019" "00" "1268" "0" "1268" "0" "c.1268C>T" "" "p.(Pro423Leu)" "r.(?)" "" "" "" "" "" "-" "0000020054" "00000020" "00" "1886" "0" "1886" "0" "c.1886C>T" "" "p.(Pro629Leu)" "r.(?)" "" "" "" "" "" "-" "0000020054" "00000021" "00" "2135" "0" "2135" "0" "c.2135C>T" "" "p.(Pro712Leu)" "r.(?)" "" "" "" "" "" "-" "0000020055" "00000019" "00" "1341" "0" "1341" "0" "c.1341G>C" "" "p.(Lys447Asn)" "r.(?)" "" "" "" "" "" "-" "0000020055" "00000020" "00" "1959" "0" "1959" "0" "c.1959G>C" "" "p.(Lys653Asn)" "r.(?)" "" "" "" "" "" "-" "0000020055" "00000021" "00" "2208" "0" "2208" "0" "c.2208G>C" "" "p.(Lys736Asn)" "r.(?)" "" "" "" "" "" "-" "0000020056" "00000019" "00" "1458" "0" "1461" "0" "c.1458_1461del" "" "p.(Lys487Asnfs*49)" "r.(?)" "" "" "" "" "" "-" "0000020056" "00000020" "00" "2076" "0" "2079" "0" "c.2076_2079del" "" "p.(Lys693Asnfs*49)" "r.(?)" "" "" "" "" "" "-" "0000020056" "00000021" "00" "2325" "0" "2328" "0" "c.2325_2328del" "" "p.(Lys776Asnfs*49)" "r.(?)" "" "" "" "" "" "-" "0000020057" "00000019" "00" "1470" "0" "1471" "0" "c.1470_1471del" "" "p.(Gln491Valfs*63)" "r.(?)" "" "" "" "" "" "-" "0000020057" "00000020" "00" "2088" "0" "2089" "0" "c.2088_2089del" "" "p.(Gln697Valfs*63)" "r.(?)" "" "" "" "" "" "-" "0000020057" "00000021" "00" "2337" "0" "2338" "0" "c.2337_2338del" "" "p.(Gln780Valfs*63)" "r.(?)" "" "" "" "" "" "-" "0000026019" "00000019" "00" "128" "8020" "128" "8020" "c.128+8020C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026019" "00000020" "00" "9" "0" "9" "0" "c.9C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026019" "00000021" "00" "220" "0" "220" "0" "c.220C>G" "" "p.(Leu74Val)" "r.(?)" "" "" "" "" "" "-" "0000026020" "00000019" "00" "129" "-2735" "129" "-2735" "c.129-2735G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026020" "00000020" "00" "470" "0" "470" "0" "c.470G>C" "" "p.(Gly157Ala)" "r.(?)" "" "" "" "" "" "-" "0000026020" "00000021" "00" "719" "0" "719" "0" "c.719G>C" "" "p.(Gly240Ala)" "r.(?)" "" "" "" "" "" "-" "0000026021" "00000019" "00" "418" "0" "418" "0" "c.418C>T" "" "p.(Arg140Trp)" "r.(?)" "" "" "" "" "" "-" "0000026021" "00000020" "00" "1036" "0" "1036" "0" "c.1036C>T" "" "p.(Arg346Trp)" "r.(?)" "" "" "" "" "" "-" "0000026021" "00000021" "00" "1285" "0" "1285" "0" "c.1285C>T" "" "p.(Arg429Trp)" "r.(?)" "" "" "" "" "" "-" "0000026022" "00000019" "00" "1159" "0" "1159" "0" "c.1159C>G" "" "p.(Leu387Val)" "r.(?)" "" "" "" "" "" "-" "0000026022" "00000020" "00" "1777" "0" "1777" "0" "c.1777C>G" "" "p.(Leu593Val)" "r.(?)" "" "" "" "" "" "-" "0000026022" "00000021" "00" "2026" "0" "2026" "0" "c.2026C>G" "" "p.(Leu676Val)" "r.(?)" "" "" "" "" "" "-" "0000026023" "00000019" "00" "1183" "0" "1183" "0" "c.1183C>T" "" "p.(Arg395Trp)" "r.(?)" "" "" "" "" "" "-" "0000026023" "00000020" "00" "1801" "0" "1801" "0" "c.1801C>T" "" "p.(Arg601Trp)" "r.(?)" "" "" "" "" "" "-" "0000026023" "00000021" "00" "2050" "0" "2050" "0" "c.2050C>T" "" "p.(Arg684Trp)" "r.(?)" "" "" "" "" "" "-" "0000026024" "00000019" "00" "1184" "0" "1184" "0" "c.1184G>A" "" "p.(Arg395Gln)" "r.(?)" "" "" "" "" "" "-" "0000026024" "00000020" "00" "1802" "0" "1802" "0" "c.1802G>A" "" "p.(Arg601Gln)" "r.(?)" "" "" "" "" "" "-" "0000026024" "00000021" "00" "2051" "0" "2051" "0" "c.2051G>A" "" "p.(Arg684Gln)" "r.(?)" "" "" "" "" "" "-" "0000026025" "00000019" "00" "1286" "0" "1286" "0" "c.1286T>C" "" "p.(Ile429Thr)" "r.(?)" "" "" "" "" "" "-" "0000026025" "00000020" "00" "1904" "0" "1904" "0" "c.1904T>C" "" "p.(Ile635Thr)" "r.(?)" "" "" "" "" "" "-" "0000026025" "00000021" "00" "2153" "0" "2153" "0" "c.2153T>C" "" "p.(Ile718Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0