### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFA11) # 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}}" "NDUFA11" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa" "19" "p13.3" "unknown" "NC_000019.9" "UD_132118701193" "" "" "" "1" "1" "20371" "126328" "612638" "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 = 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}}" "00000184" "NDUFA11" "transcript variant 2" "001" "NM_001193375.1" "" "NP_001180304.1" "" "" "" "-305" "2328" "687" "5904024" "5891287" "00001" "2013-11-07 13:55:35" "" "" "" "19" "00000185" "NDUFA11" "transcript variant 1" "002" "NM_175614.4" "" "NP_783313.1" "" "" "" "-305" "498" "426" "5904024" "5894681" "00001" "2013-11-07 13:55:35" "" "" "" "19" "00000186" "NDUFA11" "transcript variant 3" "003" "NR_034166.2" "" "" "" "" "" "1" "923" "923" "5904024" "5894681" "00001" "2013-11-07 13:55:35" "" "" "" "19" ## 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" "" "" "" "00590" "618236" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14" "618236" "" "" "" "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}}" "NDUFA11" "00011" "NDUFA11" "00590" ## 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}}" "0000018578" "0" "00" "19" "5894683" "5894684" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:05" "NDUFA11_000010" "g.5894683_5894684del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018578" "" "0000018579" "0" "55" "19" "5894694" "5894694" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:08" "NDUFA11_000011" "g.5894694G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018579" "" "0000018580" "0" "55" "19" "5894698" "5894698" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:11" "NDUFA11_000012" "g.5894698C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018580" "" "0000018581" "0" "55" "19" "5896466" "5896466" "subst" "35" "0.00101246" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:15" "NDUFA11_000013" "g.5896466C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018581" "" "0000018582" "0" "55" "19" "5896544" "5896544" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:18" "NDUFA11_000014" "g.5896544G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018582" "" "0000018583" "0" "77" "19" "5896968" "5896968" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:21" "NDUFA11_000015" "g.5896968C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018583" "" "0000018584" "0" "55" "19" "5903750" "5903750" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:51:24" "NDUFA11_000016" "g.5903750C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018584" "" "0000018585" "0" "55" "19" "5903770" "5903770" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:34" "NDUFA11_000001" "g.5903770A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018585" "" "0000018586" "0" "55" "19" "5903802" "5903802" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:42" "NDUFA11_000002" "g.5903802C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018586" "" "0000018587" "0" "33" "19" "5903807" "5903807" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:49" "NDUFA11_000003" "g.5903807G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018587" "" "0000018588" "0" "55" "19" "5903862" "5903862" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:56" "NDUFA11_000004" "g.5903862G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018588" "" "0000018589" "0" "00" "19" "5903919" "5903920" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:04" "NDUFA11_000005" "g.5903919_5903920del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018589" "" "0000018590" "0" "55" "19" "5903929" "5903929" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:11" "NDUFA11_000006" "g.5903929A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018590" "" "0000018591" "0" "33" "19" "5903936" "5903936" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:18" "NDUFA11_000007" "g.5903936T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018591" "" "0000018592" "0" "55" "19" "5903953" "5903953" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:24" "NDUFA11_000008" "g.5903953A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018592" "" "0000018593" "0" "55" "19" "5904019" "5904019" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:30" "NDUFA11_000009" "g.5904019C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018593" "" "0000025536" "0" "00" "19" "5903618" "5903618" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:47:33" "NDUFA11_000017" "g.5903618C>T" "" "" "" "" "" "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}}" "0000018578" "00000184" "00" "314" "-1383" "314" "-1382" "c.314-1383_314-1382del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018578" "00000185" "00" "495" "0" "496" "0" "c.*69_*70del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018578" "00000186" "00" "920" "0" "921" "0" "n.920_921del" "" "" "" "" "" "" "" "" "-" "0000018579" "00000184" "00" "314" "-1393" "314" "-1393" "c.314-1393C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018579" "00000185" "00" "485" "0" "485" "0" "c.*59C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018579" "00000186" "00" "910" "0" "910" "0" "n.910C>G" "" "" "" "" "" "" "" "" "-" "0000018580" "00000184" "00" "314" "-1397" "314" "-1397" "c.314-1397G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018580" "00000185" "00" "481" "0" "481" "0" "c.*55G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018580" "00000186" "00" "906" "0" "906" "0" "n.906G>C" "" "" "" "" "" "" "" "" "-" "0000018581" "00000184" "00" "311" "0" "311" "0" "c.311G>T" "" "p.(Arg104Leu)" "r.(?)" "" "" "" "" "" "-" "0000018581" "00000185" "00" "311" "0" "311" "0" "c.311G>T" "" "p.(Arg104Leu)" "r.(?)" "" "" "" "" "" "-" "0000018581" "00000186" "00" "736" "0" "736" "0" "n.736G>T" "" "" "" "" "" "" "" "" "-" "0000018582" "00000184" "00" "233" "0" "233" "0" "c.233C>T" "" "p.(Ala78Val)" "r.(?)" "" "" "" "" "" "-" "0000018582" "00000185" "00" "233" "0" "233" "0" "c.233C>T" "" "p.(Ala78Val)" "r.(?)" "" "" "" "" "" "-" "0000018582" "00000186" "00" "658" "0" "658" "0" "n.658C>T" "" "" "" "" "" "" "" "" "-" "0000018583" "00000184" "00" "138" "0" "138" "0" "c.138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018583" "00000185" "00" "138" "0" "138" "0" "c.138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018583" "00000186" "00" "563" "0" "563" "0" "n.563G>A" "" "" "" "" "" "" "" "" "-" "0000018584" "00000184" "00" "-31" "0" "-31" "0" "c.-31G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018584" "00000185" "00" "-31" "0" "-31" "0" "c.-31G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018584" "00000186" "00" "275" "0" "275" "0" "n.275G>A" "" "" "" "" "" "" "" "" "-" "0000018585" "00000184" "00" "-51" "0" "-51" "0" "c.-51T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018585" "00000185" "00" "-51" "0" "-51" "0" "c.-51T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018585" "00000186" "00" "255" "0" "255" "0" "n.255T>G" "" "" "" "" "" "" "" "" "-" "0000018586" "00000184" "00" "-83" "0" "-83" "0" "c.-83G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018586" "00000185" "00" "-83" "0" "-83" "0" "c.-83G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018586" "00000186" "00" "223" "0" "223" "0" "n.223G>C" "" "" "" "" "" "" "" "" "-" "0000018587" "00000184" "00" "-88" "0" "-88" "0" "c.-88C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018587" "00000185" "00" "-88" "0" "-88" "0" "c.-88C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018587" "00000186" "00" "218" "0" "218" "0" "n.218C>A" "" "" "" "" "" "" "" "" "-" "0000018588" "00000184" "00" "-143" "0" "-143" "0" "c.-143C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018588" "00000185" "00" "-143" "0" "-143" "0" "c.-143C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018588" "00000186" "00" "163" "0" "163" "0" "n.163C>G" "" "" "" "" "" "" "" "" "-" "0000018589" "00000184" "00" "-201" "0" "-200" "0" "c.-201_-200del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018589" "00000185" "00" "-201" "0" "-200" "0" "c.-201_-200del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018589" "00000186" "00" "105" "0" "106" "0" "n.105_106del" "" "" "" "" "" "" "" "" "-" "0000018590" "00000184" "00" "-210" "0" "-210" "0" "c.-210T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018590" "00000185" "00" "-210" "0" "-210" "0" "c.-210T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018590" "00000186" "00" "96" "0" "96" "0" "n.96T>C" "" "" "" "" "" "" "" "" "-" "0000018591" "00000184" "00" "-217" "0" "-217" "0" "c.-217A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018591" "00000185" "00" "-217" "0" "-217" "0" "c.-217A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018591" "00000186" "00" "89" "0" "89" "0" "n.89A>G" "" "" "" "" "" "" "" "" "-" "0000018592" "00000184" "00" "-234" "0" "-234" "0" "c.-234T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018592" "00000185" "00" "-234" "0" "-234" "0" "c.-234T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018592" "00000186" "00" "72" "0" "72" "0" "n.72T>C" "" "" "" "" "" "" "" "" "-" "0000018593" "00000184" "00" "-300" "0" "-300" "0" "c.-300G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018593" "00000185" "00" "-300" "0" "-300" "0" "c.-300G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018593" "00000186" "00" "6" "0" "6" "0" "n.6G>A" "" "" "" "" "" "" "" "" "-" "0000025536" "00000184" "00" "97" "5" "97" "5" "c.97+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025536" "00000185" "00" "97" "5" "97" "5" "c.97+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025536" "00000186" "00" "402" "5" "402" "5" "n.402+5G>A" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0