### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS7) # 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}}" "NDUFS7" "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)" "19" "p13" "unknown" "NC_000019.9" "UD_137845625877" "" "" "" "1" "1" "7714" "374291" "601825" "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 = 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}}" "00000215" "NDUFS7" "transcript variant X1" "001" "XM_005259555.1" "" "XP_005259612.1" "" "" "" "-109" "935" "834" "1383526" "1395588" "00001" "2013-11-07 13:56:58" "" "" "" "19" "00000216" "NDUFS7" "transcript variant X2" "002" "XM_005259556.1" "" "XP_005259613.1" "" "" "" "-41" "1766" "804" "1383630" "1395383" "00001" "2013-11-07 13:56:58" "" "" "" "19" "00000217" "NDUFS7" "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)" "003" "NM_024407.4" "" "NP_077718.3" "" "" "" "-43" "743" "642" "1383883" "1395588" "00001" "2013-11-07 13:56:58" "" "" "" "19" ## 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}}" "00581" "618224" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3" "618224" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFS7" "00581" ## 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 = 17 "{{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}}" "0000000751" "0" "99" "19" "1391005" "1391005" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:12" "NDUFS7_000001" "g.1391005G>A" "" "{PMID:15269216:15269216};{PMID:10330338:10330338}" "" "rs104894705" "subst" "0" "; clinVar; Ensembl;" "4.600" "" "" "" "" "MSCV_0000751" "" "0000000752" "0" "99" "19" "1391143" "1391143" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:12" "NDUFS7_000002" "g.1391143G>A" "" "{PMID:17275378:17275378}" "" "rs121434479" "subst" "0" "; clinVar; Ensembl;" "4.140" "" "" "" "" "MSCV_0000752" "" "0000018558" "0" "55" "19" "1387814" "1387814" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:04:14" "NDUFS7_000014" "g.1387814T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018558" "" "0000018559" "0" "33" "19" "1388538" "1388538" "subst" "35" "0.540622" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:57:09" "NDUFS7_000013" "g.1388538C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018559" "" "0000018560" "0" "77" "19" "1388862" "1388862" "subst" "35" "0.00184814" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:47" "NDUFS7_000010" "g.1388862C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018560" "" "0000018561" "0" "55" "19" "1390911" "1390911" "subst" "35" "0.000230734" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:50" "NDUFS7_000011" "g.1390911C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018561" "" "0000018562" "0" "55" "19" "1390963" "1390963" "subst" "35" "0.0000769112" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:53" "NDUFS7_000012" "g.1390963G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018562" "" "0000018563" "0" "99" "19" "1391005" "1391005" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-08 01:49:42" "NDUFS7_000001" "g.1391005G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000751" "" "0000018564" "0" "33" "19" "1391059" "1391059" "subst" "35" "0.0363958" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:53:21" "NDUFS7_000009" "g.1391059G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018564" "" "0000018565" "0" "99" "19" "1391143" "1391143" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:53:24" "NDUFS7_000002" "g.1391143G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000752" "" "0000018566" "0" "55" "19" "1395406" "1395406" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:40:49" "NDUFS7_000003" "g.1395406C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018566" "" "0000018567" "0" "55" "19" "1395458" "1395458" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-08 12:15:11" "NDUFS7_000004" "g.1395458C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018567" "" "0000018568" "0" "00" "19" "1395488" "1395490" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-20 16:30:01" "NDUFS7_000005" "g.1395488_1395490del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018568" "" "0000018569" "0" "00" "19" "1395488" "1395493" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:41:37" "NDUFS7_000006" "g.1395488_1395493del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018569" "" "0000018570" "0" "55" "19" "1395495" "1395495" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:41:41" "NDUFS7_000007" "g.1395495G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018570" "" "0000018571" "0" "33" "19" "1395500" "1395500" "subst" "35" "0.0577924" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:41:46" "NDUFS7_000008" "g.1395500C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018571" "" "0000025532" "0" "00" "19" "1386643" "1386643" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:05:07" "NDUFS7_000015" "g.1386643C>G" "" "" "" "" "" "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 = 51 "{{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}}" "0000000751" "00000215" "99" "556" "0" "556" "0" "c.556G>A" "6/9" "p.(Val186Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000751" "00000216" "99" "619" "0" "619" "0" "c.619G>A" "5/8" "p.(Val207Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000751" "00000217" "99" "364" "0" "364" "0" "c.364G>A" "6/8" "p.(Val122Met)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000752" "00000215" "99" "626" "0" "626" "0" "c.626G>A" "7/9" "p.(Arg209His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000752" "00000216" "99" "689" "0" "689" "0" "c.689G>A" "6/8" "p.(Arg230His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000752" "00000217" "99" "434" "0" "434" "0" "c.434G>A" "7/8" "p.(Arg145His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000018558" "00000215" "00" "213" "0" "213" "0" "c.213T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018558" "00000216" "00" "276" "0" "276" "0" "c.276T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018558" "00000217" "00" "21" "0" "21" "0" "c.21T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018559" "00000215" "00" "260" "0" "260" "0" "c.260C>T" "" "p.(Pro87Leu)" "r.(?)" "" "" "" "" "" "-" "0000018559" "00000216" "00" "323" "0" "323" "0" "c.323C>T" "" "p.(Pro108Leu)" "r.(?)" "" "" "" "" "" "-" "0000018559" "00000217" "00" "68" "0" "68" "0" "c.68C>T" "" "p.(Pro23Leu)" "r.(?)" "" "" "" "" "" "-" "0000018560" "00000215" "00" "345" "0" "345" "0" "c.345C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018560" "00000216" "00" "408" "0" "408" "0" "c.408C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018560" "00000217" "00" "153" "0" "153" "0" "c.153C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018561" "00000215" "00" "462" "0" "462" "0" "c.462C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018561" "00000216" "00" "525" "0" "525" "0" "c.525C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018561" "00000217" "00" "270" "0" "270" "0" "c.270C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018562" "00000215" "00" "514" "0" "514" "0" "c.514G>A" "" "p.(Val172Met)" "r.(?)" "" "" "" "" "" "-" "0000018562" "00000216" "00" "577" "0" "577" "0" "c.577G>A" "" "p.(Val193Met)" "r.(?)" "" "" "" "" "" "-" "0000018562" "00000217" "00" "322" "0" "322" "0" "c.322G>A" "" "p.(Val108Met)" "r.(?)" "" "" "" "" "" "-" "0000018563" "00000215" "00" "556" "0" "556" "0" "c.556G>A" "" "p.(Val186Met)" "r.(?)" "" "" "" "" "" "-" "0000018563" "00000216" "00" "619" "0" "619" "0" "c.619G>A" "" "p.(Val207Met)" "r.(?)" "" "" "" "" "" "-" "0000018563" "00000217" "00" "364" "0" "364" "0" "c.364G>A" "" "p.(Val122Met)" "r.(?)" "" "" "" "" "" "-" "0000018564" "00000215" "00" "600" "10" "600" "10" "c.600+10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018564" "00000216" "00" "663" "10" "663" "10" "c.663+10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018564" "00000217" "00" "408" "10" "408" "10" "c.408+10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018565" "00000215" "00" "626" "0" "626" "0" "c.626G>A" "" "p.(Arg209His)" "r.(?)" "" "" "" "" "" "-" "0000018565" "00000216" "00" "689" "0" "689" "0" "c.689G>A" "" "p.(Arg230His)" "r.(?)" "" "" "" "" "" "-" "0000018565" "00000217" "00" "434" "0" "434" "0" "c.434G>A" "" "p.(Arg145His)" "r.(?)" "" "" "" "" "" "-" "0000018566" "00000215" "00" "753" "0" "753" "0" "c.753C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018566" "00000216" "00" "1766" "23" "1766" "23" "c.*985C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018566" "00000217" "00" "561" "0" "561" "0" "c.561C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018567" "00000215" "00" "805" "0" "805" "0" "c.805C>G" "" "p.(Arg269Gly)" "r.(?)" "" "" "" "" "" "-" "0000018567" "00000216" "00" "1766" "75" "1766" "75" "c.*1037C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018567" "00000217" "00" "613" "0" "613" "0" "c.613C>G" "" "p.(Arg205Gly)" "r.(?)" "" "" "" "" "" "-" "0000018568" "00000215" "00" "835" "0" "837" "0" "c.*1_*3del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018568" "00000216" "00" "1766" "105" "1766" "107" "c.*1067_*1069del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018568" "00000217" "00" "643" "0" "645" "0" "c.*1_*3del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018569" "00000215" "00" "835" "0" "840" "0" "c.*1_*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018569" "00000216" "00" "1766" "105" "1766" "110" "c.*1067_*1072del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018569" "00000217" "00" "643" "0" "648" "0" "c.*1_*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018570" "00000215" "00" "842" "0" "842" "0" "c.*8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018570" "00000216" "00" "1766" "112" "1766" "112" "c.*1074G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018570" "00000217" "00" "650" "0" "650" "0" "c.*8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018571" "00000215" "00" "847" "0" "847" "0" "c.*13C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018571" "00000216" "00" "1766" "117" "1766" "117" "c.*1079C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018571" "00000217" "00" "655" "0" "655" "0" "c.*13C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025532" "00000215" "00" "209" "-1167" "209" "-1167" "c.209-1167C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025532" "00000216" "00" "272" "-1167" "272" "-1167" "c.272-1167C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025532" "00000217" "00" "17" "-1167" "17" "-1167" "c.17-1167C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0