### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS3) # 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}}" "NDUFS3" "NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" "11" "p11.11" "unknown" "NC_000011.9" "UD_132085262023" "" "" "" "1" "1" "7710" "4722" "603846" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.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 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}}" "00000211" "NDUFS3" "NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" "001" "NM_004551.2" "" "NP_004542.1" "" "" "" "-82" "877" "795" "47600562" "47606115" "00001" "2013-11-07 13:56:44" "" "" "" "11" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "" "" "" "00586" "618230" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8" "618230" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "NDUFS3" "00011" "NDUFS3" "00586" ## 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 = 18 "{{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}}" "0000000295" "0" "99" "11" "47603692" "47603692" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-17 07:24:50" "NDUFS3_000002" "g.47603692C>T" "" "{PMID:14729820:14729820}" "" "rs28939714" "subst" "0" "; clinVar; Ensembl;" "5.170" "" "" "" "" "MSCV_0000295" "" "0000000296" "0" "99" "11" "47603988" "47603988" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-31 08:52:00" "NDUFS3_000001" "g.47603988C>T" "" "{PMID:14729820:14729820};{PMID:22499348:22499348}" "" "rs104894270" "subst" "0" "; clinVar; Ensembl;" "3.900" "" "" "" "" "MSCV_0000296" "" "0000016439" "0" "55" "11" "47600603" "47600603" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:48:28" "NDUFS3_000016" "g.47600603T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016439" "" "0000016440" "0" "55" "11" "47600614" "47600614" "subst" "35" "0.000079783" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:31:50" "NDUFS3_000015" "g.47600614C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016440" "" "0000016441" "0" "77" "11" "47600832" "47600832" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:30" "NDUFS3_000014" "g.47600832C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016441" "" "0000016442" "0" "77" "11" "47600844" "47600844" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:58" "NDUFS3_000010" "g.47600844T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016442" "" "0000016443" "0" "55" "11" "47602133" "47602133" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:59" "NDUFS3_000011" "g.47602133T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016443" "" "0000016444" "0" "55" "11" "47602147" "47602147" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-03 05:06:41" "NDUFS3_000012" "g.47602147C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016444" "" "0000016445" "0" "55" "11" "47602541" "47602541" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:01" "NDUFS3_000013" "g.47602541G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016445" "" "0000016446" "0" "55" "11" "47602542" "47602542" "subst" "35" "0.000230805" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:40" "NDUFS3_000007" "g.47602542T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016446" "" "0000016447" "0" "99" "11" "47603692" "47603692" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:42" "NDUFS3_000002" "g.47603692C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000295" "" "0000016448" "0" "55" "11" "47603733" "47603733" "subst" "35" "0.00300046" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:47" "NDUFS3_000008" "g.47603733G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016448" "" "0000016449" "0" "99" "11" "47603988" "47603988" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:54" "NDUFS3_000001" "g.47603988C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000296" "" "0000016450" "0" "77" "11" "47603989" "47603989" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:01" "NDUFS3_000009" "g.47603989G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016450" "" "0000016451" "0" "77" "11" "47605859" "47605859" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:27" "NDUFS3_000003" "g.47605859C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016451" "" "0000016452" "0" "55" "11" "47605895" "47605895" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:34" "NDUFS3_000004" "g.47605895G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016452" "" "0000016453" "0" "55" "11" "47605991" "47605991" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:41" "NDUFS3_000005" "g.47605991T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016453" "" "0000016454" "0" "55" "11" "47606021" "47606021" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:49" "NDUFS3_000006" "g.47606021T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016454" "" ## 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 = 18 "{{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}}" "0000000295" "00000211" "99" "434" "0" "434" "0" "c.434C>T" "5/7" "p.(Thr145Ile)" "r.(?)" "possibly_damaging(0.896)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000296" "00000211" "99" "595" "0" "595" "0" "c.595C>T" "6/7" "p.(Arg199Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000016439" "00000211" "00" "-41" "0" "-41" "0" "c.-41T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016440" "00000211" "00" "-30" "0" "-30" "0" "c.-30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016441" "00000211" "00" "79" "0" "79" "0" "c.79C>T" "" "p.(Pro27Ser)" "r.(?)" "" "" "" "" "" "-" "0000016442" "00000211" "00" "91" "0" "91" "0" "c.91T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016443" "00000211" "00" "190" "0" "190" "0" "c.190T>C" "" "p.(Tyr64His)" "r.(?)" "" "" "" "" "" "-" "0000016444" "00000211" "00" "204" "0" "204" "0" "c.204C>G" "" "p.(Ile68Met)" "r.(?)" "" "" "" "" "" "-" "0000016445" "00000211" "00" "381" "5" "381" "5" "c.381+5G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016446" "00000211" "00" "381" "6" "381" "6" "c.381+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016447" "00000211" "00" "434" "0" "434" "0" "c.434C>T" "" "p.(Thr145Ile)" "r.(?)" "" "" "" "" "" "-" "0000016448" "00000211" "00" "475" "0" "475" "0" "c.475G>C" "" "p.(Val159Leu)" "r.(?)" "" "" "" "" "" "-" "0000016449" "00000211" "00" "595" "0" "595" "0" "c.595C>T" "" "p.(Arg199Trp)" "r.(?)" "" "" "" "" "" "-" "0000016450" "00000211" "00" "596" "0" "596" "0" "c.596G>A" "" "p.(Arg199Gln)" "r.(?)" "" "" "" "" "" "-" "0000016451" "00000211" "00" "628" "-7" "628" "-7" "c.628-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016452" "00000211" "00" "657" "0" "657" "0" "c.657G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016453" "00000211" "00" "753" "0" "753" "0" "c.753T>G" "" "p.(Ser251Arg)" "r.(?)" "" "" "" "" "" "-" "0000016454" "00000211" "00" "783" "0" "783" "0" "c.783T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0