### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELN) # 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}}" "ELN" "elastin" "7" "q11.1-q21.1" "unknown" "NC_000007.13" "UD_138305111330" "" "" "" "1" "1" "3327" "2006" "130160" "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 15:22:12" "" "" "" "" "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 = 15 "{{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}}" "00001872" "ELN" "transcript variant 4" "001" "NM_001081754.2" "" "NP_001075223.1" "" "" "" "-399" "3343" "2136" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001873" "ELN" "transcript variant 3" "002" "NM_001081753.2" "" "NP_001075222.1" "" "" "" "-399" "3286" "2079" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001874" "ELN" "transcript variant 13" "003" "NM_001278939.1" "" "NP_001265868.1" "" "" "" "-399" "3568" "2361" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001875" "ELN" "transcript variant 9" "004" "NM_001278915.1" "" "NP_001265844.1" "" "" "" "-399" "3400" "2193" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001876" "ELN" "transcript variant 1" "005" "NM_000501.3" "" "NP_000492.2" "" "" "" "-399" "3382" "2175" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001877" "ELN" "transcript variant 6" "006" "NM_001278912.1" "" "NP_001265841.1" "" "" "" "-399" "3328" "2121" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001878" "ELN" "transcript variant 5" "007" "NM_001081755.2" "" "NP_001075224.1" "" "" "" "-399" "3325" "2118" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001879" "ELN" "transcript variant 10" "008" "NM_001278916.1" "" "NP_001265845.1" "" "" "" "-399" "3184" "1977" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001880" "ELN" "transcript variant 7" "009" "NM_001278913.1" "" "NP_001265842.1" "" "" "" "-399" "3139" "1932" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001881" "ELN" "transcript variant 8" "010" "NM_001278914.1" "" "NP_001265843.1" "" "" "" "-399" "3310" "2103" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001882" "ELN" "transcript variant 11" "011" "NM_001278917.1" "" "NP_001265846.1" "" "" "" "-399" "3352" "2145" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001883" "ELN" "transcript variant 2" "012" "NM_001081752.2" "" "NP_001075221.1" "" "" "" "-399" "3241" "2034" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001884" "ELN" "transcript variant 12" "013" "NM_001278918.1" "" "NP_001265847.1" "" "" "" "-399" "3061" "1854" "73442119" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001885" "ELN" "transcript variant X1" "014" "XM_005250187.1" "" "XP_005250244.1" "" "" "" "-76" "3346" "2139" "73442442" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" "00001886" "ELN" "transcript variant X2" "015" "XM_005250188.1" "" "XP_005250245.1" "" "" "" "-74" "3340" "2133" "73442444" "73484237" "00001" "2013-11-15 15:23:19" "" "" "" "7" ## 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