### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFV2) # 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}}" "NDUFV2" "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa" "18" "p11.22" "unknown" "NC_000018.9" "UD_132085324647" "" "" "" "1" "1" "7717" "4729" "600532" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 = 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}}" "00000221" "NDUFV2" "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa" "001" "NM_021074.4" "" "NP_066552.2" "" "" "" "-114" "816" "750" "9102628" "9134343" "00001" "2013-11-07 13:57:11" "" "" "" "18" ## 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" "" "" "" "00170" "556500" "PARKINSON DISEASE, MITOCHONDRIAL " "556500" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00585" "618229" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7" "618229" "" "" "" "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 = 3 "{{geneid}}" "{{diseaseid}}" "NDUFV2" "00011" "NDUFV2" "00170" "NDUFV2" "00585" ## 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 = 18 "{{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}}" "0000000726" "0" "11" "18" "9117867" "9117867" "subst" "35" "0.799538" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-22 05:07:22" "NDUFV2_000001" "g.9117867T>C" "" "{PMID:9570948:9570948}" "" "rs906807" "subst" "0" "; clinvar;" "4.670" "" "" "" "" "MSCV_0000726" "" "0000018487" "0" "55" "18" "9102644" "9102644" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:34" "NDUFV2_000013" "g.9102644G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018487" "" "0000018488" "0" "55" "18" "9102648" "9102648" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:20" "NDUFV2_000002" "g.9102648A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018488" "" "0000018489" "0" "55" "18" "9102659" "9102659" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 21:51:05" "NDUFV2_000003" "g.9102659C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018489" "" "0000018490" "0" "55" "18" "9102703" "9102703" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:23" "NDUFV2_000004" "g.9102703G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018490" "" "0000018491" "0" "55" "18" "9102712" "9102712" "subst" "35" "0.00296617" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:24" "NDUFV2_000005" "g.9102712G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018491" "" "0000018492" "0" "55" "18" "9102758" "9102758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:25" "NDUFV2_000006" "g.9102758C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018492" "" "0000018493" "0" "11" "18" "9117867" "9117867" "subst" "51" "0.799538" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 07:14:40" "NDUFV2_000001" "g.9117867T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000726" "" "0000018494" "0" "33" "18" "9119489" "9119489" "subst" "35" "0.129806" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:27" "NDUFV2_000007" "g.9119489A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018494" "" "0000018495" "0" "55" "18" "9122501" "9122501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:33" "NDUFV2_000008" "g.9122501A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018495" "" "0000018496" "0" "55" "18" "9122625" "9122625" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 07:14:40" "NDUFV2_000009" "g.9122625C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018496" "" "0000018497" "0" "77" "18" "9124912" "9124912" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:49" "NDUFV2_000010" "g.9124912T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018497" "" "0000018498" "0" "55" "18" "9124948" "9124948" "subst" "35" "0.00107643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:56" "NDUFV2_000011" "g.9124948C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018498" "" "0000018499" "0" "77" "18" "9126817" "9126817" "subst" "35" "0.0143935" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:04" "NDUFV2_000012" "g.9126817T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018499" "" "0000025521" "0" "00" "18" "9117902" "9117905" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:17:19" "NDUFV2_000017" "g.9117902_9117905del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025522" "0" "00" "18" "9117902" "9117902" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:17:14" "NDUFV2_000016" "g.9117902G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025523" "0" "00" "18" "9122644" "9122645" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:00:49" "NDUFV2_000015" "g.9122644_9122645insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025524" "0" "00" "18" "9134196" "9134197" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-03 07:14:40" "NDUFV2_000014" "g.9134196_9134197insG" "" "" "" "" "" "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 = 18 "{{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}}" "0000000726" "00000221" "77" "86" "0" "86" "0" "c.86T>C" "2/8" "p.(Val29Ala)" "r.(?)" "benign(0)" "" "missense_variant" "" "" "tolerated(1)" "0000018487" "00000221" "00" "-98" "0" "-98" "0" "c.-98G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018488" "00000221" "00" "-94" "0" "-94" "0" "c.-94A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018489" "00000221" "00" "-83" "0" "-83" "0" "c.-83C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018490" "00000221" "00" "-39" "0" "-39" "0" "c.-39G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018491" "00000221" "00" "-30" "0" "-30" "0" "c.-30G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018492" "00000221" "00" "17" "0" "17" "0" "c.17C>G" "" "p.(Ala6Gly)" "r.(?)" "" "" "" "" "" "-" "0000018493" "00000221" "00" "86" "0" "86" "0" "c.86T>C" "" "p.(Val29Ala)" "r.(?)" "" "" "" "" "" "-" "0000018494" "00000221" "00" "201" "0" "201" "0" "c.201A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018495" "00000221" "00" "301" "-10" "301" "-10" "c.301-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018496" "00000221" "00" "415" "0" "415" "0" "c.415C>A" "" "p.(Pro139Thr)" "r.(?)" "" "" "" "" "" "-" "0000018497" "00000221" "00" "510" "0" "510" "0" "c.510T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018498" "00000221" "00" "546" "0" "546" "0" "c.546C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018499" "00000221" "00" "580" "-12" "580" "-12" "c.580-12T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025521" "00000221" "00" "120" "1" "120" "4" "c.120+1_120+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025522" "00000221" "00" "120" "1" "120" "1" "c.120+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025523" "00000221" "00" "434" "0" "435" "0" "c.434_435insT" "" "p.(Asp146*)" "r.(?)" "" "" "" "" "" "-" "0000025524" "00000221" "00" "669" "0" "670" "0" "c.669_670insG" "" "p.(Ser224Valfs*3)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0