### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LIPT1) # 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}}" "LIPT1" "lipoyltransferase 1" "2" "q11.2" "unknown" "NC_000002.11" "UD_132465208900" "" "" "" "1" "1" "29569" "51601" "610284" "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 15:44:54" "" "" "" "" "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}}" "00002160" "LIPT1" "transcript variant 2" "001" "NR_037936.1" "" "" "" "" "" "1" "1361" "1361" "99771418" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002161" "LIPT1" "transcript variant 3" "002" "NM_145197.2" "" "NP_660198.1" "" "" "" "-352" "1200" "1122" "99771418" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002162" "LIPT1" "transcript variant 4" "003" "NM_145198.2" "" "NP_660199.1" "" "" "" "-340" "1200" "1122" "99771418" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002163" "LIPT1" "transcript variant 1" "004" "NM_015929.3" "" "NP_057013.1" "" "" "" "-224" "1200" "1122" "99771418" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002164" "LIPT1" "transcript variant 5" "005" "NM_145199.2" "" "NP_660200.1" "" "" "" "-98" "1200" "1122" "99771418" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002165" "LIPT1" "transcript variant 7" "006" "NR_037935.1" "" "" "" "" "" "1" "1685" "1685" "99771537" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" "00002166" "LIPT1" "transcript variant 6" "007" "NM_001204830.1" "" "NP_001191759.1" "" "" "" "-422" "1200" "1122" "99771537" "99779620" "00001" "2013-11-15 15:50:57" "" "" "" "2" ## 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}}" "00015" "LS" "Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)" "256000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2019-09-09 14:25:47" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LIPT1" "00015" ## 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