### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND3) # 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-ND3" "mitochondrially encoded NADH dehydrogenase 3" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7458" "4537" "516002" "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}}" "00001340" "MT-ND3" "MT-ND3-201" "000" "MT-ND3-201" "ENST00000361227" "" "ENSP00000355206" "" "" "0" "0" "0" "10059" "10404" "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 = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00149" "LDYT" "LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME" "500001" "" "" "" "00001" "2013-11-16 09:52:08" "00001" "2013-11-16 09:55:01" "" "00577" "500014" "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1; MC1DM1" "500014" "" "" "" "00000" "2019-03-01 12:40:01" "00001" "2019-06-17 12:39:51" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MT-ND3" "00011" "MT-ND3" "00149" "MT-ND3" "00577" ## 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 = 24 "{{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}}" "0000001454" "0" "99" "M" "10158" "10158" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:19:04" "chrM_000071" "m.10158T>C" "" "{PMID:16023078:16023078};{PMID:14684687:14684687};{PMID:15576045:15576045};{PMID:14705112:14705112};{PMID:15372108:15372108}" "" "rs199476117" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-10.100" "" "" "" "" "MSCV_0001454" "" "0000001455" "0" "99" "M" "10191" "10191" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:43:16" "chrM_000072" "m.10191T>C" "" "{PMID:14764913:14764913};{PMID:11456298:11456298};{PMID:14684687:14684687};{PMID:15576045:15576045};{PMID:14705112:14705112}" "" "rs267606890" "subst" "0" "; clinVar; Mitomap; Ensembl;" "1.520" "" "" "" "" "MSCV_0001455" "" "0000001456" "0" "99" "M" "10197" "10197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:13:07" "chrM_000073" "m.10197G>A" "" "{PMID:17413873:17413873};{PMID:17152068:17152068};{PMID:19458970:19458970}" "" "rs267606891" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.070" "" "" "" "" "MSCV_0000202" "" "0000001457" "0" "99" "M" "10237" "10237" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:03:27" "chrM_000074" "m.10237T>C" "" "{PMID:20301353:20301353}" "" "rs397515504" "subst" "0" "; clinVar; Mitomap; ensembl;" "5.070" "" "" "" "" "MSCV_0001457" "" "0000001458" "0" "99" "M" "10398" "10398" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:34:19" "chrM_000075" "m.10398A>G" "" "{PMID:17066297:17066297};{PMID:6343397:6343397}" "" "rs2853826" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-10.300" "" "" "" "" "MSCV_0001458" "" "0000003671" "0" "55" "M" "10084" "10084" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:16:10" "chrM_000802" "m.10084T>C" "" "" "" "rs41487950" "subst" "0" ";" "-1.980" "" "" "" "" "MSCV_0003671" "" "0000003672" "0" "77" "M" "10086" "10086" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:27:45" "chrM_000803" "m.10086A>G" "" "" "" "rs28358274" "subst" "0" "; Mitomap;" "3.710" "" "" "" "" "MSCV_0003672" "" "0000003673" "0" "55" "M" "10115" "10115" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:32:53" "chrM_000804" "m.10115T>C" "" "" "" "rs3899188" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003673" "" "0000003674" "0" "55" "M" "10127" "10127" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:11:39" "chrM_000805" "m.10127A>G" "" "" "" "rs112133961" "subst" "0" ";" "2.200" "" "" "" "" "MSCV_0003674" "" "0000003675" "0" "55" "M" "10133" "10133" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:33:24" "chrM_000806" "m.10133A>C" "" "" "" "rs28409867" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003675" "" "0000003676" "0" "55" "M" "10135" "10135" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:37:14" "chrM_000807" "m.10135A>G" "" "" "" "rs28754574" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003676" "" "0000003677" "0" "55" "M" "10143" "10143" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:32:53" "chrM_001375" "m.10143G>A" "" "" "" "rs202131419" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003677" "" "0000003683" "0" "55" "M" "10238" "10238" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:38:12" "chrM_001337" "m.10238T>C" "" "" "" "rs28358275" "subst" "0" ";" "-3.950" "" "" "" "" "MSCV_0003683" "" "0000003684" "0" "55" "M" "10260" "10260" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:31:39" "chrM_001338" "m.10260G>A" "" "" "" "rs28655588" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0003684" "" "0000003686" "0" "55" "M" "10310" "10310" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:32:53" "chrM_001339" "m.10310G>A" "" "" "" "rs41467651" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003686" "" "0000003687" "0" "55" "M" "10321" "10321" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-07-09 01:07:58" "chrM_001340" "m.10321T>C" "" "" "" "rs28358276" "subst" "0" ";" "3.070" "" "" "" "" "MSCV_0003687" "" "0000003688" "0" "55" "M" "10345" "10345" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:32:54" "chrM_001341" "m.10345T>C" "" "" "" "rs201397417" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003688" "" "0000003689" "0" "55" "M" "10353" "10353" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:09:39" "chrM_001342" "m.10353G>A" "" "" "" "rs28435660" "subst" "0" ";" "-3.200" "" "" "" "" "MSCV_0003689" "" "0000003690" "0" "55" "M" "10356" "10356" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:17:21" "chrM_001343" "m.10356C>G" "" "" "" "rs28457866" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003690" "" "0000003691" "0" "55" "M" "10370" "10370" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:45:14" "chrM_001344" "m.10370T>C" "" "" "" "rs28673954" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003691" "" "0000003692" "0" "55" "M" "10373" "10373" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:07:03" "chrM_000994" "m.10373G>A" "" "" "" "rs28358277" "subst" "0" ";" "-0.827" "" "" "" "" "MSCV_0003692" "" "0000003694" "0" "00" "M" "10399" "10400" "del" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-11-14 02:53:46" "chrM_000995" "m.10399_10400del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0003694" "" "0000003695" "0" "55" "M" "10400" "10400" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:11:10" "chrM_000244" "m.10400C>T" "" "" "" "rs28358278" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0003695" "" "0000003696" "0" "55" "M" "10401" "10401" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-11-13 13:14:00" "chrM_000245" "m.10401G>A" "" "" "" "rs28719882" "subst" "0" ";" "2.540" "" "" "" "" "MSCV_0003696" "" ## 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 = 24 "{{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}}" "0000001454" "00001340" "99" "0" "0" "0" "0" "c.100T>C" "." "p.S34P" "r.(?)" "" "" "" "" "" "-" "0000001455" "00001340" "99" "0" "0" "0" "0" "c.133T>C" "." "p.S45P" "r.(?)" "" "" "" "" "" "-" "0000001456" "00001340" "99" "0" "0" "0" "0" "c.139G>A" "." "p.A47T" "r.(?)" "" "" "" "" "" "-" "0000001457" "00001340" "99" "0" "0" "0" "0" "c.179T>C" "." "p.I60T" "r.(?)" "" "" "" "" "" "-" "0000001458" "00001340" "99" "0" "0" "0" "0" "c.340A>G" "." "p.T114A" "r.(?)" "" "" "" "" "" "-" "0000003671" "00001340" "55" "0" "0" "0" "0" "c.26T>C" "." "p.I9T" "r.(?)" "" "" "" "" "" "-" "0000003672" "00001340" "77" "0" "0" "0" "0" "c.28A>G" "." "p.N10D" "r.(?)" "" "" "" "" "" "-" "0000003673" "00001340" "55" "0" "0" "0" "0" "c.57T>C" "." "p.I19I" "r.(?)" "" "" "" "" "" "-" "0000003674" "00001340" "55" "0" "0" "0" "0" "c.69A>G" "." "p.W23W" "r.(?)" "" "" "" "" "" "-" "0000003675" "00001340" "55" "0" "0" "0" "0" "c.75A>C" "." "p.P25P" "r.(?)" "" "" "" "" "" "-" "0000003676" "00001340" "55" "0" "0" "0" "0" "c.77A>G" "." "p.Q26R" "r.(?)" "" "" "" "" "" "-" "0000003677" "00001340" "55" "0" "0" "0" "0" "c.85G>A" "." "p.G29S" "r.(?)" "" "" "" "" "" "-" "0000003683" "00001340" "55" "0" "0" "0" "0" "c.180T>C" "." "p.I60I" "r.(?)" "" "" "" "" "" "-" "0000003684" "00001340" "55" "0" "0" "0" "0" "c.202G>A" "." "p.E68K" "r.(?)" "" "" "" "" "" "-" "0000003686" "00001340" "55" "0" "0" "0" "0" "c.252G>A" "." "p.L84L" "r.(?)" "" "" "" "" "" "-" "0000003687" "00001340" "55" "0" "0" "0" "0" "c.263T>C" "." "p.V88A" "r.(?)" "" "" "" "" "" "-" "0000003688" "00001340" "55" "0" "0" "0" "0" "c.287T>C" "." "p.I96T" "r.(?)" "" "" "" "" "" "-" "0000003689" "00001340" "55" "0" "0" "0" "0" "c.295G>A" "." "p.A99T" "r.(?)" "" "" "" "" "" "-" "0000003690" "00001340" "55" "0" "0" "0" "0" "c.298C>G" "." "p.L100V" "r.(?)" "" "" "" "" "" "-" "0000003691" "00001340" "55" "0" "0" "0" "0" "c.312T>C" "." "p.T104T" "r.(?)" "" "" "" "" "" "-" "0000003692" "00001340" "55" "0" "0" "0" "0" "c.315G>A" "." "p.E105E" "r.(?)" "" "" "" "" "" "-" "0000003694" "00001340" "00" "0" "0" "0" "0" "c.342C>T" "." "p.T114T" "r.(?)" "" "" "" "" "" "-" "0000003695" "00001340" "55" "0" "0" "0" "0" "c.342C>T" "." "p.T114T" "r.(?)" "" "" "" "" "" "-" "0000003696" "00001340" "55" "0" "0" "0" "0" "c.343G>A" "." "p.E115K" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0