### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS4) # 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}}" "NDUFS4" "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)" "5" "q11.1" "unknown" "NC_000005.9" "UD_138306693113" "" "" "" "1" "1" "7711" "4724" "602694" "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 = 2 "{{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}}" "00000212" "NDUFS4" "transcript variant X1" "001" "XM_005248525.1" "" "XP_005248582.1" "" "" "" "-29" "571" "363" "52856464" "52979168" "00001" "2013-11-07 13:56:48" "" "" "" "5" "00000213" "NDUFS4" "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)" "002" "NM_002495.2" "" "NP_002486.1" "" "" "" "-28" "648" "528" "52856465" "52979171" "00001" "2013-11-07 13:56:48" "" "" "" "5" ## 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}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFS4" "00011" ## 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 = 26 "{{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}}" "0000001017" "0" "99" "5" "52856536" "52856536" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-03 05:36:31" "NDUFS4_000004" "g.52856536G>A" "" "{PMID:11181577:11181577}" "" "rs104893899" "subst" "0" "; clinVar; Ensembl;" "-1.200" "" "" "" "" "MSCV_0001017" "" "0000001018" "0" "77" "5" "52942175" "52942175" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-07 09:43:46" "NDUFS4_000003" "g.52942175del" "" "{PMID:10944442:10944442}" "" "rs121908985" "del" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0001018" "" "0000001019" "0" "99" "5" "52942176" "52942176" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:05" "NDUFS4_000001" "g.52942176del" "" "" "" "" "del" "0" ";" "6.060" "" "" "" "" "MSCV_0001019" "" "0000001020" "0" "99" "5" "52942201" "52942201" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:05" "NDUFS4_000002" "g.52942201C>T" "" "{PMID:10944442:10944442}" "" "rs104893898" "subst" "0" "; clinVar; Ensembl;" "1.940" "" "" "" "" "MSCV_0001020" "" "0000005239" "0" "99" "5" "52942176" "52942176" "del" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-08-09 00:59:14" "NDUFS4_000001" "g.52942176del" "" "{PMID:10944442:10944442}" "" "rs121908985" "del" "0" "; ensembl;" "6.060" "" "" "" "" "MSCV_0005239" "" "0000021301" "0" "55" "5" "52856471" "52856471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:03:10" "NDUFS4_000018" "g.52856471C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021301" "" "0000021302" "0" "11" "5" "52856504" "52856504" "subst" "35" "0.661541" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:03:13" "NDUFS4_000019" "g.52856504G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021302" "" "0000021303" "0" "55" "5" "52856505" "52856505" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:34" "NDUFS4_000005" "g.52856505T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021303" "" "0000021304" "0" "99" "5" "52856536" "52856536" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:37" "NDUFS4_000004" "g.52856536G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001017" "" "0000021305" "0" "99" "5" "52899281" "52899281" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:55" "NDUFS4_000016" "g.52899281G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021305" "" "0000021306" "0" "77" "5" "52899285" "52899285" "subst" "35" "0.00207597" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:57" "NDUFS4_000017" "g.52899285G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021306" "" "0000021307" "0" "55" "5" "52942059" "52942059" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:18" "NDUFS4_000014" "g.52942059G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021307" "" "0000021308" "0" "99" "5" "52942061" "52942061" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:21" "NDUFS4_000015" "g.52942061A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021308" "" "0000021309" "0" "11" "5" "52942083" "52942083" "subst" "35" "0.968784" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:36" "NDUFS4_000011" "g.52942083A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021309" "" "0000021310" "0" "99" "5" "52942175" "52942175" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:40" "NDUFS4_000003" "g.52942175del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001018" "" "0000021311" "0" "11" "5" "52942197" "52942197" "subst" "35" "0.79248" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:42" "NDUFS4_000012" "g.52942197A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021311" "" "0000021312" "0" "99" "5" "52942201" "52942201" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:45" "NDUFS4_000002" "g.52942201C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001020" "" "0000021313" "0" "00" "5" "52954367" "52954370" "del" "35" "0.00591149" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:47" "NDUFS4_000013" "g.52954367_52954370del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021313" "" "0000021314" "0" "00" "5" "52954468" "52954469" "ins" "35" "0.162806" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:00" "NDUFS4_000006" "g.52954468_52954469insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021314" "" "0000021315" "0" "00" "5" "52978982" "52978982" "del" "35" "0.0000798722" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:02" "NDUFS4_000007" "g.52978982del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021315" "" "0000021316" "0" "99" "5" "52978993" "52978994" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:04" "NDUFS4_000008" "g.52978993_52978994del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021316" "" "0000021317" "0" "33" "5" "52979097" "52979097" "subst" "35" "0.419499" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-13 17:19:17" "NDUFS4_000009" "g.52979097G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021317" "" "0000021318" "0" "55" "5" "52979130" "52979130" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:08" "NDUFS4_000010" "g.52979130A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021318" "" "0000026336" "0" "00" "5" "52954385" "52954385" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:26:23" "NDUFS4_000022" "g.52954385G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026337" "0" "00" "5" "52978987" "52978988" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:59:47" "NDUFS4_000020" "g.52978987_52978988insCAAGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026338" "0" "00" "5" "52979034" "52979035" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:59:58" "NDUFS4_000021" "g.52979034_52979035insGAG" "" "" "" "" "" "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}}" "0000001017" "00000212" "99" "44" "0" "44" "0" "c.44G>A" "1/6" "p.(Trp15*)" "r.(?)" "-" "" "stop_gained,NMD_transcript_variant" "" "" "-" "0000001017" "00000213" "99" "44" "0" "44" "0" "c.44G>A" "1/6" "p.(Trp15*)" "r.(?)" "-" "" "stop_gained,NMD_transcript_variant" "" "" "-" "0000001018" "00000212" "77" "290" "0" "290" "0" "c.290del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000001018" "00000213" "77" "290" "0" "290" "0" "c.290del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000001019" "00000213" "55" "291" "0" "291" "0" "c.291del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000001020" "00000212" "99" "316" "0" "316" "0" "c.316C>T" "3/5" "p.(Arg106*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001020" "00000213" "99" "316" "0" "316" "0" "c.316C>T" "3/5" "p.(Arg106*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005239" "00000212" "00" "291" "0" "291" "0" "c.291del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000005239" "00000213" "00" "291" "0" "291" "0" "c.291del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000021301" "00000212" "00" "-22" "0" "-22" "0" "c.-22C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021301" "00000213" "00" "-22" "0" "-22" "0" "c.-22C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021302" "00000212" "00" "12" "0" "12" "0" "c.12G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021302" "00000213" "00" "12" "0" "12" "0" "c.12G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021303" "00000212" "00" "13" "0" "13" "0" "c.13T>C" "" "p.(Ser5Pro)" "r.(?)" "" "" "" "" "" "-" "0000021303" "00000213" "00" "13" "0" "13" "0" "c.13T>C" "" "p.(Ser5Pro)" "r.(?)" "" "" "" "" "" "-" "0000021304" "00000212" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Trp15*)" "r.(?)" "" "" "" "" "" "-" "0000021304" "00000213" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Trp15*)" "r.(?)" "" "" "" "" "" "-" "0000021305" "00000212" "00" "99" "-1" "99" "-1" "c.99-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021305" "00000213" "00" "99" "-1" "99" "-1" "c.99-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021306" "00000212" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021306" "00000213" "00" "102" "0" "102" "0" "c.102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021307" "00000212" "00" "178" "-4" "178" "-4" "c.178-4G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021307" "00000213" "00" "178" "-4" "178" "-4" "c.178-4G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021308" "00000212" "00" "178" "-2" "178" "-2" "c.178-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021308" "00000213" "00" "178" "-2" "178" "-2" "c.178-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021309" "00000212" "00" "198" "0" "198" "0" "c.198A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021309" "00000213" "00" "198" "0" "198" "0" "c.198A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021310" "00000212" "00" "290" "0" "290" "0" "c.290del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000021310" "00000213" "00" "290" "0" "290" "0" "c.290del" "" "p.(Trp97*)" "r.(?)" "" "" "" "" "" "-" "0000021311" "00000212" "00" "312" "0" "312" "0" "c.312A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021311" "00000213" "00" "312" "0" "312" "0" "c.312A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021312" "00000212" "00" "316" "0" "316" "0" "c.316C>T" "" "p.(Arg106*)" "r.(?)" "" "" "" "" "" "-" "0000021312" "00000213" "00" "316" "0" "316" "0" "c.316C>T" "" "p.(Arg106*)" "r.(?)" "" "" "" "" "" "-" "0000021313" "00000212" "00" "350" "12132" "350" "12135" "c.350+12132_350+12135del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021313" "00000213" "00" "351" "-14" "351" "-11" "c.351-14_351-11del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021314" "00000212" "00" "350" "12233" "350" "12234" "c.350+12233_350+12234insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021314" "00000213" "00" "424" "14" "424" "15" "c.424+14_424+15insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021315" "00000212" "00" "385" "0" "385" "0" "c.*22del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021315" "00000213" "00" "459" "0" "459" "0" "c.459del" "" "p.(Lys154Asnfs*35)" "r.(?)" "" "" "" "" "" "-" "0000021316" "00000212" "00" "396" "0" "397" "0" "c.*33_*34del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021316" "00000213" "00" "470" "0" "471" "0" "c.470_471del" "" "p.(Ser157*)" "r.(?)" "" "" "" "" "" "-" "0000021317" "00000212" "00" "500" "0" "500" "0" "c.*137G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021317" "00000213" "00" "574" "0" "574" "0" "c.*46G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021318" "00000212" "00" "533" "0" "533" "0" "c.*170A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021318" "00000213" "00" "607" "0" "607" "0" "c.*79A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026336" "00000212" "00" "350" "12150" "350" "12150" "c.350+12150G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026336" "00000213" "00" "355" "0" "355" "0" "c.355G>C" "" "p.(Asp119His)" "r.(?)" "" "" "" "" "" "-" "0000026337" "00000212" "00" "390" "0" "391" "0" "c.*27_*28insCAAGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026337" "00000213" "00" "464" "0" "465" "0" "c.464_465insCAAGT" "" "p.(Lys158Serfs*33)" "r.(?)" "" "" "" "" "" "-" "0000026338" "00000212" "00" "437" "0" "438" "0" "c.*74_*75insGAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026338" "00000213" "00" "511" "0" "512" "0" "c.511_512insGAG" "" "p.(Arg171_Val172insGly)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0