### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF6) # 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}}" "NDUFAF6" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6" "8" "q22.1" "unknown" "NC_000008.10" "UD_138437659191" "" "" "" "1" "1" "28625" "137682" "612392" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-13 15:08:28" "" "" "" "" "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 = 7 "{{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}}" "00001309" "NDUFAF6" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6" "002" "NM_152416.3" "" "NP_689629.2" "" "" "" "-23" "1781" "1002" "96037214" "96070944" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001310" "NDUFAF6" "transcript variant X1" "001" "XM_005250788.1" "" "XP_005250845.1" "" "" "" "-28" "1570" "936" "96037209" "96115685" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001311" "NDUFAF6" "transcript variant X2" "004" "XM_005250789.1" "" "XP_005250846.1" "" "" "" "-294" "1499" "726" "96037223" "96070938" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001312" "NDUFAF6" "transcript variant X3" "003" "XM_005250790.1" "" "XP_005250847.1" "" "" "" "-467" "1442" "669" "96037222" "96070938" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001313" "NDUFAF6" "transcript variant X4" "006" "XM_005250791.1" "" "XP_005250848.1" "" "" "" "-521" "1319" "546" "96037296" "96070938" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001314" "NDUFAF6" "transcript variant X5" "005" "XM_005250792.1" "" "XP_005250849.1" "" "" "" "-560" "1319" "546" "96037261" "96070938" "00001" "2013-11-13 15:08:28" "" "" "" "8" "00001315" "NDUFAF6" "transcript variant X6" "007" "XM_005250793.1" "" "XP_005250850.1" "" "" "" "-473" "1319" "546" "96037417" "96070938" "00001" "2013-11-13 15:08:28" "" "" "" "8" ## 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}}" "00593" "618239" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17" "618239" "" "" "" "00000" "2019-03-01 12:40:01" "00001" "2019-06-17 12:38:17" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFAF6" "00593" ## 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 = 11 "{{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}}" "0000001253" "0" "99" "8" "96044321" "96044321" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-03 04:22:15" "NDUFAF6_000001" "g.96044321A>G" "" "{PMID:18614015:18614015}" "" "rs137853184" "subst" "0" "; clinVar; Ensembl;" "4.450" "" "" "" "" "MSCV_0001253" "" "0000022440" "0" "99" "8" "96044231" "96044231" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-06-02 23:27:30" "NDUFAF6_000010" "g.96044231A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022440" "" "0000022441" "0" "99" "8" "96044251" "96044251" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:16" "NDUFAF6_000002" "g.96044251T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022441" "" "0000022442" "0" "99" "8" "96044321" "96044321" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-01 09:18:01" "NDUFAF6_000001" "g.96044321A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001253" "" "0000022443" "0" "00" "8" "96047712" "96047712" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:28" "NDUFAF6_000003" "g.96047712G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022443" "" "0000022444" "0" "55" "8" "96047755" "96047755" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-15 00:53:29" "NDUFAF6_000004" "g.96047755T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022444" "" "0000022445" "0" "99" "8" "96057827" "96057827" "subst" "35" "0.000169779" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:40" "NDUFAF6_000005" "g.96057827G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022445" "" "0000022446" "0" "00" "8" "96059252" "96059252" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:47" "NDUFAF6_000006" "g.96059252C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022446" "" "0000022447" "0" "77" "8" "96060689" "96060689" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:55" "NDUFAF6_000007" "g.96060689G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022447" "" "0000022448" "0" "99" "8" "96060775" "96060775" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:01" "NDUFAF6_000008" "g.96060775C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022448" "" "0000022449" "0" "99" "8" "96064405" "96064405" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:08" "NDUFAF6_000009" "g.96064405A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022449" "" ## 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 = 77 "{{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}}" "0000001253" "00001309" "99" "296" "0" "296" "0" "c.296A>G" "2/11" "p.(Gln99Arg)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001253" "00001310" "99" "296" "0" "296" "0" "c.296A>G" "2/11" "p.(Gln99Arg)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001253" "00001311" "99" "16" "0" "16" "0" "c.16A>G" "2/9" "p.(Arg6Gly)" "r.(?)" "benign(0.046)" "" "missense_variant" "" "" "tolerated(0.11)" "0000001253" "00001312" "99" "-157" "0" "-157" "0" "c.-157A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001253" "00001313" "99" "-285" "0" "-285" "0" "c.-285A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001253" "00001314" "99" "-289" "0" "-289" "0" "c.-289A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001253" "00001315" "99" "-358" "0" "-358" "0" "c.-358A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022440" "00001309" "00" "206" "0" "206" "0" "c.206A>T" "" "p.(Asp69Val)" "r.(?)" "" "" "" "" "" "-" "0000022440" "00001310" "00" "206" "0" "206" "0" "c.206A>T" "" "p.(Asp69Val)" "r.(?)" "" "" "" "" "" "-" "0000022440" "00001311" "00" "-75" "0" "-75" "0" "c.-75A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022440" "00001312" "00" "-247" "0" "-247" "0" "c.-247A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022440" "00001313" "00" "-375" "0" "-375" "0" "c.-375A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022440" "00001314" "00" "-379" "0" "-379" "0" "c.-379A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022440" "00001315" "00" "-448" "0" "-448" "0" "c.-448A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022441" "00001309" "00" "226" "0" "226" "0" "c.226T>C" "" "p.(Ser76Pro)" "r.(?)" "" "" "" "" "" "-" "0000022441" "00001310" "00" "226" "0" "226" "0" "c.226T>C" "" "p.(Ser76Pro)" "r.(?)" "" "" "" "" "" "-" "0000022441" "00001311" "00" "-55" "0" "-55" "0" "c.-55T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022441" "00001312" "00" "-227" "0" "-227" "0" "c.-227T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022441" "00001313" "00" "-355" "0" "-355" "0" "c.-355T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022441" "00001314" "00" "-359" "0" "-359" "0" "c.-359T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022441" "00001315" "00" "-428" "0" "-428" "0" "c.-428T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022442" "00001309" "00" "296" "0" "296" "0" "c.296A>G" "" "p.(Gln99Arg)" "r.(?)" "" "" "" "" "" "-" "0000022442" "00001310" "00" "296" "0" "296" "0" "c.296A>G" "" "p.(Gln99Arg)" "r.(?)" "" "" "" "" "" "-" "0000022442" "00001311" "00" "16" "0" "16" "0" "c.16A>G" "" "p.(Arg6Gly)" "r.(?)" "" "" "" "" "" "-" "0000022442" "00001312" "00" "-157" "0" "-157" "0" "c.-157A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022442" "00001313" "00" "-285" "0" "-285" "0" "c.-285A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022442" "00001314" "00" "-289" "0" "-289" "0" "c.-289A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022442" "00001315" "00" "-358" "0" "-358" "0" "c.-358A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022443" "00001309" "00" "328" "0" "328" "0" "c.328G>T" "" "p.(Gly110*)" "r.(?)" "" "" "" "" "" "-" "0000022443" "00001310" "00" "328" "0" "328" "0" "c.328G>T" "" "p.(Gly110*)" "r.(?)" "" "" "" "" "" "-" "0000022443" "00001311" "00" "52" "0" "52" "0" "c.52G>T" "" "p.(Gly18*)" "r.(?)" "" "" "" "" "" "-" "0000022443" "00001312" "00" "-6" "0" "-6" "0" "c.-6G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022443" "00001313" "00" "-253" "0" "-253" "0" "c.-253G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022443" "00001314" "00" "-253" "0" "-253" "0" "c.-253G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022443" "00001315" "00" "-322" "0" "-322" "0" "c.-322G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022444" "00001309" "00" "371" "0" "371" "0" "c.371T>C" "" "p.(Ile124Thr)" "r.(?)" "" "" "" "" "" "-" "0000022444" "00001310" "00" "371" "0" "371" "0" "c.371T>C" "" "p.(Ile124Thr)" "r.(?)" "" "" "" "" "" "-" "0000022444" "00001311" "00" "95" "0" "95" "0" "c.95T>C" "" "p.(Ile32Thr)" "r.(?)" "" "" "" "" "" "-" "0000022444" "00001312" "00" "38" "0" "38" "0" "c.38T>C" "" "p.(Ile13Thr)" "r.(?)" "" "" "" "" "" "-" "0000022444" "00001313" "00" "-210" "0" "-210" "0" "c.-210T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022444" "00001314" "00" "-210" "0" "-210" "0" "c.-210T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022444" "00001315" "00" "-279" "0" "-279" "0" "c.-279T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022445" "00001309" "00" "532" "0" "532" "0" "c.532G>C" "" "p.(Ala178Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001310" "00" "532" "0" "532" "0" "c.532G>C" "" "p.(Ala178Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001311" "00" "256" "0" "256" "0" "c.256G>C" "" "p.(Ala86Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001312" "00" "199" "0" "199" "0" "c.199G>C" "" "p.(Ala67Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001313" "00" "76" "0" "76" "0" "c.76G>C" "" "p.(Ala26Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001314" "00" "76" "0" "76" "0" "c.76G>C" "" "p.(Ala26Pro)" "r.(?)" "" "" "" "" "" "-" "0000022445" "00001315" "00" "76" "0" "76" "0" "c.76G>C" "" "p.(Ala26Pro)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001309" "00" "611" "0" "611" "0" "c.611C>T" "" "p.(Ala204Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001310" "00" "611" "0" "611" "0" "c.611C>T" "" "p.(Ala204Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001311" "00" "335" "0" "335" "0" "c.335C>T" "" "p.(Ala112Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001312" "00" "278" "0" "278" "0" "c.278C>T" "" "p.(Ala93Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001313" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ala52Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001314" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ala52Val)" "r.(?)" "" "" "" "" "" "-" "0000022446" "00001315" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ala52Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001309" "00" "719" "0" "719" "0" "c.719G>T" "" "p.(Gly240Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001310" "00" "719" "0" "719" "0" "c.719G>T" "" "p.(Gly240Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001311" "00" "443" "0" "443" "0" "c.443G>T" "" "p.(Gly148Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001312" "00" "386" "0" "386" "0" "c.386G>T" "" "p.(Gly129Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001313" "00" "263" "0" "263" "0" "c.263G>T" "" "p.(Gly88Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001314" "00" "263" "0" "263" "0" "c.263G>T" "" "p.(Gly88Val)" "r.(?)" "" "" "" "" "" "-" "0000022447" "00001315" "00" "263" "0" "263" "0" "c.263G>T" "" "p.(Gly88Val)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001309" "00" "805" "0" "805" "0" "c.805C>G" "" "p.(His269Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001310" "00" "805" "0" "805" "0" "c.805C>G" "" "p.(His269Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001311" "00" "529" "0" "529" "0" "c.529C>G" "" "p.(His177Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001312" "00" "472" "0" "472" "0" "c.472C>G" "" "p.(His158Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001313" "00" "349" "0" "349" "0" "c.349C>G" "" "p.(His117Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001314" "00" "349" "0" "349" "0" "c.349C>G" "" "p.(His117Asp)" "r.(?)" "" "" "" "" "" "-" "0000022448" "00001315" "00" "349" "0" "349" "0" "c.349C>G" "" "p.(His117Asp)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001309" "00" "820" "0" "820" "0" "c.820A>G" "" "p.(Arg274Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001310" "00" "820" "0" "820" "0" "c.820A>G" "" "p.(Arg274Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001311" "00" "544" "0" "544" "0" "c.544A>G" "" "p.(Arg182Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001312" "00" "487" "0" "487" "0" "c.487A>G" "" "p.(Arg163Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001313" "00" "364" "0" "364" "0" "c.364A>G" "" "p.(Arg122Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001314" "00" "364" "0" "364" "0" "c.364A>G" "" "p.(Arg122Gly)" "r.(?)" "" "" "" "" "" "-" "0000022449" "00001315" "00" "364" "0" "364" "0" "c.364A>G" "" "p.(Arg122Gly)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0