### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYB5R3) # 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}}" "CYB5R3" "cytochrome b5 reductase 3" "22" "q13.2" "unknown" "NC_000022.10" "UD_132085233253" "" "" "" "1" "1" "2873" "1727" "613213" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "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 = 5 "{{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}}" "00000675" "CYB5R3" "transcript variant 1" "001" "NM_000398.6" "" "NP_000389.1" "" "" "" "-84" "2839" "906" "43045405" "43013846" "00001" "2013-11-12 21:36:39" "" "" "" "22" "00000676" "CYB5R3" "transcript variant 2" "002" "NM_007326.4" "" "NP_015565.1" "" "" "" "-152" "2770" "837" "43042995" "43013846" "00001" "2013-11-12 21:36:39" "" "" "" "22" "00000677" "CYB5R3" "transcript variant 4" "003" "NM_001171661.1" "" "NP_001165132.1" "" "" "" "-213" "2770" "837" "43042995" "43013846" "00001" "2013-11-12 21:36:39" "" "" "" "22" "00000678" "CYB5R3" "transcript variant 3" "004" "NM_001129819.2" "" "NP_001123291.1" "" "" "" "-397" "2770" "837" "43042995" "43013846" "00001" "2013-11-12 21:36:39" "" "" "" "22" "00000679" "CYB5R3" "transcript variant 5" "005" "NM_001171660.1" "" "NP_001165131.1" "" "" "" "-125" "2938" "1005" "43040640" "43013846" "00001" "2013-11-12 21:36:39" "" "" "" "22" ## 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}}" "00650" "250800" "Deficiency of cytochrome-b5 reductase" "250800" "" "" "" "00000" "2019-06-16 12:00:01" "" "" "Added by batch from OMIM 2019-6-16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYB5R3" "00650" ## 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