### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFB8) # 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}}" "NDUFB8" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa" "10" "q24.31" "unknown" "NC_000010.10" "UD_138431468716" "" "" "" "1" "1" "7703" "4714" "602140" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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}}" "00000968" "NDUFB8" "transcript variant X2" "001" "XM_005269856.1" "" "XP_005269913.1" "" "" "" "-30" "565" "468" "102289636" "102283497" "00001" "2013-11-12 21:51:32" "" "" "" "10" "00000969" "NDUFB8" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa" "002" "NM_005004.2" "" "NP_004995.1" "" "" "" "-28" "658" "561" "102289636" "102283497" "00001" "2013-11-12 21:51:32" "" "" "" "10" "00000970" "NDUFB8" "transcript variant X1" "003" "XM_005269855.1" "" "XP_005269912.1" "" "" "" "-32" "672" "519" "102289640" "102283693" "00001" "2013-11-12 21:51:32" "" "" "" "10" ## 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}}" "00606" "618252" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32" "618252" "" "" "" "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}}" "NDUFB8" "00606" ## 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 = 4 "{{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}}" "0000024030" "0" "00" "10" "102286192" "102286192" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:52:30" "NDUFB8_000001" "g.102286192G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024031" "0" "00" "10" "102286817" "102286817" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:52:41" "NDUFB8_000002" "g.102286817G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024032" "0" "00" "10" "102289160" "102289160" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:52:54" "NDUFB8_000003" "g.102289160del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024033" "0" "00" "10" "102289165" "102289165" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:53:12" "NDUFB8_000004" "g.102289165A>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 = 12 "{{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}}" "0000024030" "00000968" "00" "339" "0" "339" "0" "c.339C>G" "" "p.(Cys113Trp)" "r.(?)" "" "" "" "" "" "-" "0000024030" "00000969" "00" "432" "0" "432" "0" "c.432C>G" "" "p.(Cys144Trp)" "r.(?)" "" "" "" "" "" "-" "0000024030" "00000970" "00" "432" "0" "432" "0" "c.432C>G" "" "p.(Cys144Trp)" "r.(?)" "" "" "" "" "" "-" "0000024031" "00000968" "00" "134" "0" "134" "0" "c.134C>A" "" "p.(Pro45Gln)" "r.(?)" "" "" "" "" "" "-" "0000024031" "00000969" "00" "227" "0" "227" "0" "c.227C>A" "" "p.(Pro76Gln)" "r.(?)" "" "" "" "" "" "-" "0000024031" "00000970" "00" "227" "0" "227" "0" "c.227C>A" "" "p.(Pro76Gln)" "r.(?)" "" "" "" "" "" "-" "0000024032" "00000968" "00" "96" "0" "96" "0" "c.96del" "" "p.(Glu32Aspfs*35)" "r.(?)" "" "" "" "" "" "-" "0000024032" "00000969" "00" "189" "0" "189" "0" "c.189del" "" "p.(Glu63Aspfs*35)" "r.(?)" "" "" "" "" "" "-" "0000024032" "00000970" "00" "189" "0" "189" "0" "c.189del" "" "p.(Glu63Aspfs*35)" "r.(?)" "" "" "" "" "" "-" "0000024033" "00000968" "00" "91" "0" "91" "0" "c.91T>C" "" "p.(Tyr31His)" "r.(?)" "" "" "" "" "" "-" "0000024033" "00000969" "00" "184" "0" "184" "0" "c.184T>C" "" "p.(Tyr62His)" "r.(?)" "" "" "" "" "" "-" "0000024033" "00000970" "00" "184" "0" "184" "0" "c.184T>C" "" "p.(Tyr62His)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0