### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFA2) # 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}}" "NDUFA2" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa" "5" "q31.2" "unknown" "NC_000005.9" "UD_132118796182" "" "" "" "1" "1" "7685" "4695" "602137" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 3 "{{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}}" "00000189" "NDUFA2" "transcript variant 1" "001" "NM_002488.4" "" "NP_002479.1" "" "" "" "-202" "524" "300" "140027370" "140024948" "00001" "2013-11-07 13:55:47" "" "" "" "5" "00000190" "NDUFA2" "transcript variant 2" "002" "NM_001185012.1" "" "NP_001171941.1" "" "" "" "-202" "571" "231" "140027370" "140024948" "00001" "2013-11-07 13:55:47" "" "" "" "5" "00000191" "NDUFA2" "transcript variant 3" "003" "NR_033697.1" "" "" "" "" "" "1" "846" "846" "140027370" "140024948" "00001" "2013-11-07 13:55:47" "" "" "" "5" ## 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}}" "00589" "618235" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13" "618235" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFA2" "00589" ## 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 = 11 "{{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}}" "0000021595" "0" "55" "5" "140026858" "140026858" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:44" "NDUFA2_000007" "g.140026858T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021595" "" "0000021596" "0" "55" "5" "140026872" "140026872" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:48" "NDUFA2_000008" "g.140026872G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021596" "" "0000021597" "0" "55" "5" "140026914" "140026914" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:50" "NDUFA2_000009" "g.140026914C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021597" "" "0000021598" "0" "33" "5" "140027216" "140027216" "subst" "35" "0.368608" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:40:53" "NDUFA2_000010" "g.140027216T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021598" "" "0000021599" "0" "77" "5" "140027218" "140027218" "subst" "35" "0.00200401" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:35" "NDUFA2_000001" "g.140027218C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021599" "" "0000021600" "0" "55" "5" "140027219" "140027219" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:38" "NDUFA2_000002" "g.140027219G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021600" "" "0000021601" "0" "55" "5" "140027221" "140027221" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:41" "NDUFA2_000003" "g.140027221T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021601" "" "0000021602" "0" "55" "5" "140027231" "140027231" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:44" "NDUFA2_000004" "g.140027231C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021602" "" "0000021603" "0" "33" "5" "140027304" "140027304" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:47" "NDUFA2_000005" "g.140027304T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021603" "" "0000021604" "0" "55" "5" "140027313" "140027313" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:49" "NDUFA2_000006" "g.140027313A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021604" "" "0000026399" "0" "00" "5" "140026836" "140026836" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:27:48" "NDUFA2_000011" "g.140026836C>T" "" "" "" "" "" "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 = 33 "{{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}}" "0000021595" "00000189" "00" "191" "0" "191" "0" "c.191A>G" "" "p.(Lys64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021595" "00000190" "00" "191" "0" "191" "0" "c.191A>G" "" "p.(Lys64Arg)" "r.(?)" "" "" "" "" "" "-" "0000021595" "00000191" "00" "513" "0" "513" "0" "n.513A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021596" "00000189" "00" "177" "0" "177" "0" "c.177C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021596" "00000190" "00" "177" "0" "177" "0" "c.177C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021596" "00000191" "00" "499" "0" "499" "0" "n.499C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021597" "00000189" "00" "135" "0" "135" "0" "c.135G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021597" "00000190" "00" "135" "0" "135" "0" "c.135G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021597" "00000191" "00" "457" "0" "457" "0" "n.457G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021598" "00000189" "00" "-48" "0" "-48" "0" "c.-48A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021598" "00000190" "00" "-48" "0" "-48" "0" "c.-48A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021598" "00000191" "00" "155" "0" "155" "0" "n.155A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021599" "00000189" "00" "-50" "0" "-50" "0" "c.-50G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021599" "00000190" "00" "-50" "0" "-50" "0" "c.-50G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021599" "00000191" "00" "153" "0" "153" "0" "n.153G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021600" "00000189" "00" "-51" "0" "-51" "0" "c.-51C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021600" "00000190" "00" "-51" "0" "-51" "0" "c.-51C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021600" "00000191" "00" "152" "0" "152" "0" "n.152C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021601" "00000189" "00" "-53" "0" "-53" "0" "c.-53A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021601" "00000190" "00" "-53" "0" "-53" "0" "c.-53A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021601" "00000191" "00" "150" "0" "150" "0" "n.150A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021602" "00000189" "00" "-63" "0" "-63" "0" "c.-63G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021602" "00000190" "00" "-63" "0" "-63" "0" "c.-63G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021602" "00000191" "00" "140" "0" "140" "0" "n.140G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021603" "00000189" "00" "-136" "0" "-136" "0" "c.-136A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021603" "00000190" "00" "-136" "0" "-136" "0" "c.-136A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021603" "00000191" "00" "67" "0" "67" "0" "n.67A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021604" "00000189" "00" "-145" "0" "-145" "0" "c.-145T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021604" "00000190" "00" "-145" "0" "-145" "0" "c.-145T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021604" "00000191" "00" "58" "0" "58" "0" "n.58T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026399" "00000189" "00" "208" "5" "208" "5" "c.208+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026399" "00000190" "00" "208" "5" "208" "5" "c.208+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026399" "00000191" "00" "530" "5" "530" "5" "n.530+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0