### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADHFE1) # 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}}" "ADHFE1" "alcohol dehydrogenase, iron containing, 1" "8" "q12.3" "unknown" "NC_000008.10" "UD_138454926184" "" "" "" "1" "1" "16354" "137872" "611083" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 14:58:14" "" "" "" "" "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 = 17 "{{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}}" "00001469" "ADHFE1" "transcript variant X11" "001" "XM_005251162.1" "" "XP_005251219.1" "" "" "" "-514" "1171" "714" "67344693" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001470" "ADHFE1" "transcript variant X16" "002" "XR_242452.1" "" "" "" "" "" "1" "2204" "2204" "67344711" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001471" "ADHFE1" "transcript variant X2" "003" "XM_005251153.1" "" "XP_005251210.1" "" "" "" "-138" "1717" "1260" "67344711" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001472" "ADHFE1" "transcript variant X13" "004" "XR_242449.1" "" "" "" "" "" "1" "1821" "1821" "67344713" "67384260" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001473" "ADHFE1" "transcript variant X15" "005" "XR_242451.1" "" "" "" "" "" "1" "2249" "2249" "67344713" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001474" "ADHFE1" "transcript variant X14" "006" "XR_242450.1" "" "" "" "" "" "1" "1720" "1720" "67344713" "67381040" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001475" "ADHFE1" "alcohol dehydrogenase, iron containing, 1" "007" "NM_144650.2" "" "NP_653251.2" "" "" "" "-34" "1861" "1404" "67344718" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001476" "ADHFE1" "transcript variant X3" "008" "XM_005251154.1" "" "XP_005251211.1" "" "" "" "-132" "1717" "1260" "67344726" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001477" "ADHFE1" "transcript variant X10" "009" "XM_005251161.1" "" "XP_005251218.1" "" "" "" "-468" "1171" "714" "67344730" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001478" "ADHFE1" "transcript variant X9" "010" "XM_005251160.1" "" "XP_005251217.1" "" "" "" "-510" "1171" "714" "67344735" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001479" "ADHFE1" "transcript variant X4" "011" "XM_005251155.1" "" "XP_005251212.1" "" "" "" "-76" "1717" "1260" "67344735" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001480" "ADHFE1" "transcript variant X7" "012" "XM_005251158.1" "" "XP_005251215.1" "" "" "" "-84" "1651" "1194" "67344739" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001481" "ADHFE1" "transcript variant X12" "013" "XM_005251163.1" "" "XP_005251220.1" "" "" "" "-417" "1171" "714" "67344743" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001482" "ADHFE1" "transcript variant X5" "014" "XM_005251156.1" "" "XP_005251213.1" "" "" "" "-420" "1717" "1260" "67344745" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001483" "ADHFE1" "transcript variant X1" "015" "XM_005251152.1" "" "XP_005251209.1" "" "" "" "-284" "1804" "1347" "67344841" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001484" "ADHFE1" "transcript variant X6" "016" "XM_005251157.1" "" "XP_005251214.1" "" "" "" "-538" "1717" "1260" "67351471" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" "00001485" "ADHFE1" "transcript variant X8" "017" "XM_005251159.1" "" "XP_005251216.1" "" "" "" "-101" "1717" "1260" "67351955" "67381044" "00001" "2013-11-15 15:01:39" "" "" "" "8" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 0 ## 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 = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0