### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND4L) # 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}}" "MT-ND4L" "mitochondrially encoded NADH dehydrogenase 4L" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7460" "4539" "516004" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "Y" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "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 = 1 "{{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}}" "00001342" "MT-ND4L" "MT-ND4L-201" "000" "MT-ND4L-201" "ENST00000361335" "" "ENSP00000354728" "" "" "0" "0" "0" "10470" "10766" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## 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}}" "00072" "LHON" "LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705" "535000" "" "" "" "00001" "2013-11-13 09:27:26" "00001" "2014-03-27 15:58:45" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MT-ND4L" "00072" ## 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 = 22 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001461" "0" "99" "M" "10563" "10563" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-13 01:26:59" "chrM_000202" "m.10563T>C" "" "{PMID:13298683:13298683};{PMID:9806551:9806551}" "" "rs267606892" "subst" "0" "; clinVar; Ensembl;" "5.070" "" "" "" "" "MSCV_0001461" "" "0000001462" "0" "99" "M" "10663" "10663" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-13 01:00:52" "chrM_000176" "m.10663T>C" "" "{PMID:20301353:20301353};{PMID:11935318:11935318}" "" "rs199476114" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.070" "" "" "" "" "MSCV_0001462" "" "0000003706" "0" "55" "M" "10506" "10506" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 02:56:59" "chrM_000251" "m.10506A>G" "" "" "" "rs199688733" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003706" "" "0000003707" "0" "55" "M" "10521" "10521" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:35:06" "chrM_000252" "m.10521G>A" "" "" "" "rs28735641" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003707" "" "0000003708" "0" "77" "M" "10543" "10543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:38:07" "chrM_000253" "m.10543A>G" "" "" "" "" "subst" "0" "; Mitomap;" "5.070" "" "" "" "" "MSCV_0003708" "" "0000003709" "0" "55" "M" "10550" "10550" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:34:17" "chrM_000254" "m.10550A>G" "" "" "" "rs28358280" "subst" "0" ";" "3.700" "" "" "" "" "MSCV_0003709" "" "0000003711" "0" "55" "M" "10572" "10572" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:54:45" "chrM_000255" "m.10572G>A" "" "" "" "rs28520241" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003711" "" "0000003712" "0" "55" "M" "10586" "10586" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 02:48:51" "chrM_000256" "m.10586G>A" "" "" "" "rs28358281" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003712" "" "0000003713" "0" "55" "M" "10589" "10589" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 02:49:52" "chrM_000257" "m.10589G>A" "" "" "" "rs2853487" "subst" "0" ";" "-6.470" "" "" "" "" "MSCV_0003713" "" "0000003714" "0" "55" "M" "10590" "10590" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:08:54" "chrM_000258" "m.10590T>G" "" "" "" "rs28532736" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003714" "" "0000003715" "0" "77" "M" "10591" "10591" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:23:58" "chrM_000259" "m.10591T>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.060" "" "" "" "" "MSCV_0003715" "" "0000003716" "0" "55" "M" "10609" "10609" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:18:57" "chrM_000260" "m.10609T>C" "" "" "" "rs200487531" "subst" "0" ";" "-3.420" "" "" "" "" "MSCV_0003716" "" "0000003717" "0" "77" "M" "10652" "10652" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:04:53" "chrM_000261" "m.10652T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-10.100" "" "" "" "" "MSCV_0003717" "" "0000003718" "0" "55" "M" "10656" "10656" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:53:44" "chrM_000262" "m.10656A>G" "" "" "" "rs28645634" "subst" "0" ";" "-9.780" "" "" "" "" "MSCV_0003718" "" "0000003720" "0" "55" "M" "10664" "10664" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:32:02" "chrM_000263" "m.10664C>T" "" "" "" "rs2854121" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003720" "" "0000003721" "0" "77" "M" "10680" "10680" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:44:08" "chrM_000264" "m.10680G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.410" "" "" "" "" "MSCV_0003721" "" "0000003722" "0" "55" "M" "10688" "10688" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:10:55" "chrM_000996" "m.10688G>A" "" "" "" "rs2853488" "subst" "0" ";" "-10.400" "" "" "" "" "MSCV_0003722" "" "0000003723" "0" "55" "M" "10704" "10704" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:37:18" "chrM_000997" "m.10704G>A" "" "" "" "rs28437034" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003723" "" "0000003724" "0" "55" "M" "10706" "10706" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:47:42" "chrM_000998" "m.10706C>T" "" "" "" "rs3928311" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003724" "" "0000003725" "0" "55" "M" "10712" "10712" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:50:43" "chrM_000999" "m.10712C>T" "" "" "" "rs3902408" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003725" "" "0000003726" "0" "55" "M" "10733" "10733" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 00:43:19" "chrM_001000" "m.10733C>A" "" "" "" "rs28709356" "subst" "0" ";" "-6.150" "" "" "" "" "MSCV_0003726" "" "0000003727" "0" "55" "M" "10763" "10763" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-13 01:14:56" "chrM_001001" "m.10763C>G" "" "" "" "rs28532881" "subst" "0" ";" "-2.850" "" "" "" "" "MSCV_0003727" "" ## 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 = 22 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001461" "00001342" "99" "0" "0" "0" "0" "c.94T>C" "." "p.C32R" "r.(?)" "" "" "" "" "" "-" "0000001462" "00001342" "99" "0" "0" "0" "0" "c.194T>C" "." "p.V65A" "r.(?)" "" "" "" "" "" "-" "0000003706" "00001342" "55" "0" "0" "0" "0" "c.37A>G" "." "p.T13A" "r.(?)" "" "" "" "" "" "-" "0000003707" "00001342" "55" "0" "0" "0" "0" "c.52G>A" "." "p.G18*" "r.(?)" "" "" "" "" "" "-" "0000003708" "00001342" "77" "0" "0" "0" "0" "c.74A>G" "." "p.H25R" "r.(?)" "" "" "" "" "" "-" "0000003709" "00001342" "55" "0" "0" "0" "0" "c.81A>G" "." "p.M27M" "r.(?)" "" "" "" "" "" "-" "0000003711" "00001342" "55" "0" "0" "0" "0" "c.103G>A" "." "p.G35*" "r.(?)" "" "" "" "" "" "-" "0000003712" "00001342" "55" "0" "0" "0" "0" "c.117G>A" "." "p.S39S" "r.(?)" "" "" "" "" "" "-" "0000003713" "00001342" "55" "0" "0" "0" "0" "c.120G>A" "." "p.L40L" "r.(?)" "" "" "" "" "" "-" "0000003714" "00001342" "55" "0" "0" "0" "0" "c.121T>G" "." "p.F41V" "r.(?)" "" "" "" "" "" "-" "0000003715" "00001342" "77" "0" "0" "0" "0" "c.122T>G" "." "p.F41C" "r.(?)" "" "" "" "" "" "-" "0000003716" "00001342" "55" "0" "0" "0" "0" "c.140T>C" "." "p.M47T" "r.(?)" "" "" "" "" "" "-" "0000003717" "00001342" "77" "0" "0" "0" "0" "c.183T>C" "." "p.I61I" "r.(?)" "" "" "" "" "" "-" "0000003718" "00001342" "55" "0" "0" "0" "0" "c.187A>G" "." "p.M63V" "r.(?)" "" "" "" "" "" "-" "0000003720" "00001342" "55" "0" "0" "0" "0" "c.195C>T" "." "p.V65V" "r.(?)" "" "" "" "" "" "-" "0000003721" "00001342" "77" "0" "0" "0" "0" "c.211G>A" "." "p.A71T" "r.(?)" "" "" "" "" "" "-" "0000003722" "00001342" "55" "0" "0" "0" "0" "c.219G>A" "." "p.V73V" "r.(?)" "" "" "" "" "" "-" "0000003723" "00001342" "55" "0" "0" "0" "0" "c.235G>A" "." "p.V79I" "r.(?)" "" "" "" "" "" "-" "0000003724" "00001342" "55" "0" "0" "0" "0" "c.237C>T" "." "p.V79V" "r.(?)" "" "" "" "" "" "-" "0000003725" "00001342" "55" "0" "0" "0" "0" "c.243C>T" "." "p.I81I" "r.(?)" "" "" "" "" "" "-" "0000003726" "00001342" "55" "0" "0" "0" "0" "c.264C>A" "." "p.D88E" "r.(?)" "" "" "" "" "" "-" "0000003727" "00001342" "55" "0" "0" "0" "0" "c.294C>G" "." "p.C98W" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0