### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCO1) # 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}}" "SCO1" "SCO1 cytochrome c oxidase assembly protein" "17" "p13.1" "unknown" "NC_000017.10" "UD_132118339840" "" "" "" "1" "1" "10603" "6341" "603644" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 13:50:45" "" "" "" "" "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 = 1 "{{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}}" "00000289" "SCO1" "SCO cytochrome oxidase deficient homolog 1 (yeast)" "001" "NM_004589.2" "" "NP_004580.1" "" "" "" "-61" "1693" "906" "10600885" "10583649" "00001" "2013-11-07 13:59:07" "" "" "" "17" ## 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}}" "00012" "220110" "Mitochondrial complex IV deficiency, 220110 (3)" "220110" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCO1" "00012" ## 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 = 34 "{{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}}" "0000000708" "0" "99" "17" "10596122" "10596122" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:08:58" "SCO1_000001" "g.10596122G>A" "" "{PMID:11013136:11013136}" "" "rs104894630" "subst" "0" "; clinvar;" "6.080" "" "" "" "" "MSCV_0000708" "" "0000002608" "0" "55" "17" "10599058" "10599059" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-07-01 05:00:32" "SCO1_000002" "g.10599058_10599059del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0002608" "" "0000018158" "0" "11" "17" "10583714" "10583714" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:12" "SCO1_000032" "g.10583714G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018158" "" "0000018159" "0" "00" "17" "10583835" "10583835" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:14" "SCO1_000033" "g.10583835del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018159" "" "0000018160" "0" "55" "17" "10583842" "10583842" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:50:06" "SCO1_000031" "g.10583842T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018160" "" "0000018161" "0" "55" "17" "10584033" "10584033" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-12 09:22:14" "SCO1_000029" "g.10584033T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018161" "" "0000018162" "0" "55" "17" "10584087" "10584087" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:28" "SCO1_000005" "g.10584087G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018162" "" "0000018163" "0" "11" "17" "10584116" "10584116" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-04 21:28:40" "SCO1_000006" "g.10584116C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018163" "" "0000018164" "0" "33" "17" "10584126" "10584126" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:31" "SCO1_000007" "g.10584126G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018164" "" "0000018165" "0" "55" "17" "10584151" "10584151" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:32" "SCO1_000008" "g.10584151G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018165" "" "0000018166" "0" "33" "17" "10584164" "10584164" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-14 12:54:21" "SCO1_000009" "g.10584164A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018166" "" "0000018167" "0" "55" "17" "10584309" "10584309" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:02" "SCO1_000010" "g.10584309T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018167" "" "0000018168" "0" "55" "17" "10584375" "10584375" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:03" "SCO1_000011" "g.10584375T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018168" "" "0000018169" "0" "55" "17" "10584474" "10584474" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:05" "SCO1_000012" "g.10584474T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018169" "" "0000018170" "0" "55" "17" "10584555" "10584555" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:06" "SCO1_000013" "g.10584555T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018170" "" "0000018171" "0" "00" "17" "10590046" "10590046" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-05 23:20:04" "SCO1_000014" "g.10590046T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018171" "" "0000018172" "0" "55" "17" "10590126" "10590126" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-15 17:12:15" "SCO1_000015" "g.10590126G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018172" "" "0000018173" "0" "55" "17" "10590142" "10590142" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-15 16:05:59" "SCO1_000016" "g.10590142C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018173" "" "0000018174" "0" "55" "17" "10595204" "10595204" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:33" "SCO1_000017" "g.10595204C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018174" "" "0000018175" "0" "33" "17" "10595250" "10595250" "subst" "35" "0.0439797" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:35" "SCO1_000018" "g.10595250T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018175" "" "0000018176" "0" "99" "17" "10596122" "10596122" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:36" "SCO1_000001" "g.10596122G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000708" "" "0000018177" "0" "99" "17" "10596249" "10596249" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-18 01:12:57" "SCO1_000019" "g.10596249C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018177" "" "0000018178" "0" "99" "17" "10599057" "10599058" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:39" "SCO1_000020" "g.10599057_10599058del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018178" "" "0000018179" "0" "55" "17" "10599118" "10599118" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-14 14:09:59" "SCO1_000021" "g.10599118A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018179" "" "0000018180" "0" "33" "17" "10599125" "10599125" "subst" "35" "0.0163771" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:42" "SCO1_000022" "g.10599125T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018180" "" "0000018181" "0" "55" "17" "10600552" "10600552" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:44" "SCO1_000023" "g.10600552C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018181" "" "0000018182" "0" "55" "17" "10600566" "10600566" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-14 13:32:06" "SCO1_000024" "g.10600566G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018182" "" "0000018183" "0" "55" "17" "10600601" "10600601" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:47" "SCO1_000025" "g.10600601G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018183" "" "0000018184" "0" "33" "17" "10600653" "10600653" "subst" "35" "0.0502907" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-07 04:25:49" "SCO1_000026" "g.10600653G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018184" "" "0000018185" "0" "77" "17" "10600809" "10600809" "subst" "35" "0.00422947" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:49" "SCO1_000027" "g.10600809G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018185" "" "0000018186" "0" "55" "17" "10600810" "10600810" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:51" "SCO1_000028" "g.10600810G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018186" "" "0000018187" "0" "00" "17" "10600820" "10600820" "subst" "35" "0.000845894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:23:03" "SCO1_000030" "g.10600820G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018187" "" "0000018188" "0" "55" "17" "10600873" "10600873" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:57:44" "SCO1_000003" "g.10600873G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018188" "" "0000018189" "0" "00" "17" "10600876" "10600876" "del" "35" "0.00200578" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:57:45" "SCO1_000004" "g.10600876del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018189" "" ## 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 = 34 "{{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}}" "0000000708" "00000289" "99" "521" "0" "521" "0" "c.521C>T" "3/6" "p.(Pro174Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002608" "00000289" "55" "364" "0" "363" "0" "c.363_364del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018158" "00000289" "00" "1628" "0" "1628" "0" "c.*722C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018159" "00000289" "00" "1507" "0" "1507" "0" "c.*601del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018160" "00000289" "00" "1500" "0" "1500" "0" "c.*594A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018161" "00000289" "00" "1309" "0" "1309" "0" "c.*403A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018162" "00000289" "00" "1255" "0" "1255" "0" "c.*349C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018163" "00000289" "00" "1226" "0" "1226" "0" "c.*320G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018164" "00000289" "00" "1216" "0" "1216" "0" "c.*310C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018165" "00000289" "00" "1191" "0" "1191" "0" "c.*285C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018166" "00000289" "00" "1178" "0" "1178" "0" "c.*272T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018167" "00000289" "00" "1033" "0" "1033" "0" "c.*127A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018168" "00000289" "00" "967" "0" "967" "0" "c.*61A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018169" "00000289" "00" "868" "0" "868" "0" "c.868A>G" "" "p.(Ile290Val)" "r.(?)" "" "" "" "" "" "-" "0000018170" "00000289" "00" "787" "0" "787" "0" "c.787A>G" "" "p.(Ile263Val)" "r.(?)" "" "" "" "" "" "-" "0000018171" "00000289" "00" "769" "0" "769" "0" "c.769A>C" "" "p.(Ile257Leu)" "r.(?)" "" "" "" "" "" "-" "0000018172" "00000289" "00" "689" "0" "689" "0" "c.689C>T" "" "p.(Thr230Met)" "r.(?)" "" "" "" "" "" "-" "0000018173" "00000289" "00" "673" "0" "673" "0" "c.673G>A" "" "p.(Val225Ile)" "r.(?)" "" "" "" "" "" "-" "0000018174" "00000289" "00" "640" "0" "640" "0" "c.640G>A" "" "p.(Ala214Thr)" "r.(?)" "" "" "" "" "" "-" "0000018175" "00000289" "00" "594" "0" "594" "0" "c.594A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018176" "00000289" "00" "521" "0" "521" "0" "c.521C>T" "" "p.(Pro174Leu)" "r.(?)" "" "" "" "" "" "-" "0000018177" "00000289" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Gly132Ser)" "r.(?)" "" "" "" "" "" "-" "0000018178" "00000289" "00" "364" "0" "364" "1" "c.364_364+1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018179" "00000289" "00" "304" "0" "304" "0" "c.304T>G" "" "p.(Phe102Val)" "r.(?)" "" "" "" "" "" "-" "0000018180" "00000289" "00" "297" "0" "297" "0" "c.297A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018181" "00000289" "00" "273" "0" "273" "0" "c.273G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018182" "00000289" "00" "259" "0" "259" "0" "c.259C>T" "" "p.(Pro87Ser)" "r.(?)" "" "" "" "" "" "-" "0000018183" "00000289" "00" "224" "0" "224" "0" "c.224C>T" "" "p.(Pro75Leu)" "r.(?)" "" "" "" "" "" "-" "0000018184" "00000289" "00" "172" "0" "172" "0" "c.172C>T" "" "p.(Pro58Ser)" "r.(?)" "" "" "" "" "" "-" "0000018185" "00000289" "00" "16" "0" "16" "0" "c.16C>G" "" "p.(Leu6Val)" "r.(?)" "" "" "" "" "" "-" "0000018186" "00000289" "00" "15" "0" "15" "0" "c.15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018187" "00000289" "00" "5" "0" "5" "0" "c.5C>A" "" "p.(Ala2Glu)" "r.(?)" "" "" "" "" "" "-" "0000018188" "00000289" "00" "-49" "0" "-49" "0" "c.-49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018189" "00000289" "00" "-52" "0" "-52" "0" "c.-52del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0