### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCB7) # 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}}" "ABCB7" "ATP-binding cassette, sub-family B (MDR/TAP), member 7" "X" "q13.3" "unknown" "NC_000023.10" "UD_138377558068" "" "" "" "1" "1" "48" "22" "300135" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "c" "http://mseqdr.lumc.edu/LOVD3/refseq/ABCB7_codingDNA.html" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-06 16:07:55" "" "" "" "" "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}}" "00000007" "ABCB7" "transcript variant 1" "005" "NM_004299.4" "" "NP_004290.2" "" "" "" "-68" "2460" "2262" "74376175" "74273007" "00001" "2013-11-06 16:08:56" "" "" "" "X" "00000008" "ABCB7" "transcript variant 2" "003" "NM_001271696.1" "" "NP_001258625.1" "" "" "" "-68" "2457" "2259" "74376175" "74273007" "00001" "2013-11-06 16:08:56" "" "" "" "X" "00000009" "ABCB7" "transcript variant 3" "002" "NM_001271697.1" "" "NP_001258626.1" "" "" "" "-68" "2337" "2139" "74376175" "74273007" "00001" "2013-11-06 16:08:56" "" "" "" "X" "00000010" "ABCB7" "transcript variant 4" "001" "NM_001271698.1" "" "NP_001258627.1" "" "" "" "-68" "2379" "2181" "74376175" "74273007" "00001" "2013-11-06 16:08:56" "" "" "" "X" "00000011" "ABCB7" "transcript variant 5" "004" "NM_001271699.1" "" "NP_001258628.1" "" "" "" "-68" "2340" "2142" "74376175" "74273007" "00001" "2013-11-06 16:08:56" "" "" "" "X" ## 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