### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NARS2) # 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}}" "NARS2" "asparaginyl-tRNA synthetase 2, mitochondrial (putative)" "11" "q14.1" "unknown" "NC_000011.9" "UD_136022406500" "" "" "" "1" "1" "26274" "79731" "612803" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 2 "{{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}}" "00000934" "NARS2" "transcript variant 2" "001" "NM_001243251.1" "" "NP_001230180.1" "" "" "" "-576" "1462" "753" "78285909" "78147007" "00001" "2013-11-12 21:49:35" "" "" "" "11" "00000935" "NARS2" "transcript variant 1" "002" "NM_024678.5" "" "NP_078954.4" "" "" "" "-376" "2143" "1434" "78285909" "78147007" "00001" "2013-11-12 21:49:35" "" "" "" "11" ## 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}}" "00517" "616239" "Combined oxidative phosphorylation deficiency 24, 616239 (3)" "616239" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NARS2" "00517" ## 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 = 14 "{{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}}" "0000016777" "0" "99" "11" "78147844" "78147844" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-25 15:13:01" "NARS2_000001" "g.78147844G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016777" "" "0000016778" "0" "99" "11" "78204109" "78204109" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-25 14:35:00" "NARS2_000002" "g.78204109C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016778" "" "0000016779" "0" "99" "11" "78239936" "78239936" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-25 15:50:47" "NARS2_000003" "g.78239936G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016779" "" "0000016780" "0" "00" "11" "78239988" "78239988" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-25 17:06:33" "NARS2_000004" "g.78239988A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016780" "" "0000016781" "0" "99" "11" "78285524" "78285524" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-29 21:53:52" "NARS2_000005" "g.78285524del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016781" "" "0000024157" "0" "00" "11" "78154785" "78154785" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:16:15" "NARS2_000014" "g.78154785A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024158" "0" "00" "11" "78176944" "78176944" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:22:20" "NARS2_000009" "g.78176944T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024159" "0" "00" "11" "78180350" "78180350" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:22:34" "NARS2_000010" "g.78180350A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024160" "0" "00" "11" "78204224" "78204224" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:22:46" "NARS2_000011" "g.78204224A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024161" "0" "00" "11" "78239946" "78239946" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:23:00" "NARS2_000012" "g.78239946A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024162" "0" "00" "11" "78270584" "78270584" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 10:08:36" "NARS2_000013" "g.78270584C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024163" "0" "00" "11" "78277191" "78277191" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 10:08:36" "NARS2_000007" "g.78277191T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024164" "0" "00" "11" "78282464" "78282464" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:20" "NARS2_000008" "g.78282464T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024165" "0" "00" "11" "78282480" "78282480" "subst" "35" "0.0000770297" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:10" "NARS2_000006" "g.78282480G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 28 "{{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}}" "0000016777" "00000934" "00" "625" "0" "625" "0" "c.625C>G" "" "p.(Arg209Gly)" "r.(?)" "" "" "" "" "" "-" "0000016777" "00000935" "00" "1306" "0" "1306" "0" "c.1306C>G" "" "p.(Arg436Gly)" "r.(?)" "" "" "" "" "" "-" "0000016778" "00000934" "00" "141" "0" "141" "0" "c.141G>C" "" "p.(Gln47His)" "r.(?)" "" "" "" "" "" "-" "0000016778" "00000935" "00" "822" "0" "822" "0" "c.822G>C" "" "p.(Gln274His)" "r.(?)" "" "" "" "" "" "-" "0000016779" "00000934" "00" "-41" "0" "-41" "0" "c.-41C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016779" "00000935" "00" "641" "0" "641" "0" "c.641C>T" "" "p.(Pro214Leu)" "r.(?)" "" "" "" "" "" "-" "0000016780" "00000934" "00" "-87" "-6" "-87" "-6" "c.-87-6T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016780" "00000935" "00" "595" "-6" "595" "-6" "c.595-6T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016781" "00000934" "00" "-541" "350" "-541" "350" "c.-541+350del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016781" "00000935" "00" "10" "0" "10" "0" "c.10del" "" "p.(Val4Serfs*25)" "r.(?)" "" "" "" "" "" "-" "0000024157" "00000934" "00" "503" "0" "503" "0" "c.503T>G" "" "p.(Leu168Arg)" "r.(?)" "" "" "" "" "" "-" "0000024157" "00000935" "00" "1184" "0" "1184" "0" "c.1184T>G" "" "p.(Leu395Arg)" "r.(?)" "" "" "" "" "" "-" "0000024158" "00000934" "00" "461" "0" "461" "0" "c.461A>G" "" "p.(Asn154Ser)" "r.(?)" "" "" "" "" "" "-" "0000024158" "00000935" "00" "1142" "0" "1142" "0" "c.1142A>G" "" "p.(Asn381Ser)" "r.(?)" "" "" "" "" "" "-" "0000024159" "00000934" "00" "288" "0" "288" "0" "c.288T>A" "" "p.(Tyr96*)" "r.(?)" "" "" "" "" "" "-" "0000024159" "00000935" "00" "969" "0" "969" "0" "c.969T>A" "" "p.(Tyr323*)" "r.(?)" "" "" "" "" "" "-" "0000024160" "00000934" "00" "26" "0" "26" "0" "c.26T>G" "" "p.(Phe9Cys)" "r.(?)" "" "" "" "" "" "-" "0000024160" "00000935" "00" "707" "0" "707" "0" "c.707T>G" "" "p.(Phe236Cys)" "r.(?)" "" "" "" "" "" "-" "0000024161" "00000934" "00" "-51" "0" "-51" "0" "c.-51T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024161" "00000935" "00" "631" "0" "631" "0" "c.631T>A" "" "p.(Phe211Ile)" "r.(?)" "" "" "" "" "" "-" "0000024162" "00000934" "00" "-88" "1" "-88" "1" "c.-88+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024162" "00000935" "00" "594" "1" "594" "1" "c.594+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024163" "00000934" "00" "-182" "0" "-182" "0" "c.-182A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024163" "00000935" "00" "500" "0" "500" "0" "c.500A>G" "" "p.(His167Arg)" "r.(?)" "" "" "" "" "" "-" "0000024164" "00000934" "00" "-515" "0" "-515" "0" "c.-515A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024164" "00000935" "00" "167" "0" "167" "0" "c.167A>G" "" "p.(Gln56Arg)" "r.(?)" "" "" "" "" "" "-" "0000024165" "00000934" "00" "-531" "0" "-531" "0" "c.-531C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024165" "00000935" "00" "151" "0" "151" "0" "c.151C>T" "" "p.(Arg51Cys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0